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Mutations on the Protein: P42336 From Positions: 534 To 587

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10
0
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Swiss-Prot Polymorphism: VAR_026182
p.GLN546ARG
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026179
p.GLN546GLU
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026180
p.GLN546LYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026181
p.GLN546PRO
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026176
p.GLU545ALA
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026174
p.GLU542GLN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_026177
p.GLU545GLY
N/A
N/A
Keratosis, seborrheic (KERSEB)


Swiss-Prot Disease: VAR_026173
p.GLU542LYS
N/A
N/A
Keratosis, seborrheic (KERSEB)


Swiss-Prot Disease: VAR_026178
p.GLU545LYS
N/A
N/A
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)


Swiss-Prot Polymorphism: VAR_026175
p.GLU542VAL
N/A
N/A
N/A


OMIM Disease: 171834.0006
p.GLN546GLU
N/A
N/A
BREAST CANCER, SOMATIC


OMIM Disease: 171834.0005
p.GLN546LYS
N/A
N/A
OVARIAN CANCER, EPITHELIAL, SOMATIC||COLORECTAL CANCER, SOMATIC, INCLUDED


OMIM Disease: 171834.0008
p.GLU545ALA
N/A
N/A
HEPATOCELLULAR CARCINOMA, SOMATIC


OMIM Disease: 171834.0004
p.GLU545GLY
N/A
N/A
COLORECTAL CANCER, SOMATIC||NEVUS, EPIDERMAL, SOMATIC, INCLUDED


OMIM Disease: 171834.0009
p.GLU542LYS
N/A
N/A
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL||NEVI, SOMATIC


OMIM Disease: 171834.0003
p.GLU545LYS
N/A
N/A
BREAST CANCER, SOMATIC||OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED;;||COLORECTAL CANCER, SOMATIC, INCLUDED;;||GASTRIC






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