Results for the protein: Q15477

Results for the Protein: Q15477

313104288

6499

SKIV2L

NCBI, UniProt

SKIV2_HUMAN RecName: Full=Helicase SKI2W; Short=Ski2; AltName: Full=Helicase-like protein; Short=HLP

Known Diseases associated with this Protein:
TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 (THES2)

3

12

2

6

7

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: COG4581 - COG4581 COG1204 - COG1204 DEXDc - smart00487 DEAD - pfam00270 DEXDc - cd00046 HELICc - cd00079 HELICc - smart00490 Helicase_C - pfam00271 DSHCT - pfam08148	Swiss-Prot Protein: Q15477 Identical to: NP_008860 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DEXDc	cd00046	2e-16	326	457
HELICc	cd00079	1.5e-19	540	718
COG4581	COG4581	7.9e-261	129	1245
DEAD	pfam00270	1.2e-29	312	463
Helicase_C	pfam00271	4.1e-08	625	708
DEXDc	smart00487	3.9e-27	303	490
HELICc	smart00490	8.8e-18	622	708
DSHCT	pfam08148	9e-77	1068	1245

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs449643	Polymorphism	p.ALA1071GLU	N/A
Swiss-Prot	VAR_055891	Polymorphism	p.ALA1071VAL	N/A
Swiss-Prot	VAR_055888	Polymorphism	p.ARG324TRP	N/A
dbSNP	rs3911893	Polymorphism	p.ASP887ASN	N/A
dbSNP	rs438999	Polymorphism	p.GLN151ARG	N/A
dbSNP	rs35985869	Polymorphism	p.GLN60ARG	N/A
Swiss-Prot	VAR_060381	Polymorphism	p.GLY1153ARG	N/A
Swiss-Prot	VAR_035944	Polymorphism	p.LEU183VAL	N/A
Swiss-Prot	VAR_035945	Polymorphism	p.MET765ILE	N/A
dbSNP	rs437179	Polymorphism	p.MET214LEU	N/A
Swiss-Prot	VAR_060382	Polymorphism	p.VAL1238GLY	N/A
Swiss-Prot	VAR_067721	Disease	p.VAL341GLY	Trichohepatoenteric syndrome 2 (THES2)
dbSNP	rs106287	Polymorphism	p.VAL917MET	N/A
OMIM	600478.0001	Disease	p.TRP283TER	TRICHOHEPATOENTERIC SYNDROME 2
OMIM	600478.0002	Disease	p.VAL341GLY	TRICHOHEPATOENTERIC SYNDROME 2

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