Varaico: Literature-Extracted Genetic Variants

PMEL

673 papers

RefSeq Summary

This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essen...

Pfam Domains

PMEL_NMB_Naa 42–210UCSCPMEL/NMB N-terminal domain

PKDaa 222–304UCSCPKD domain

PKAT_KLDaa 515–566UCSCPKAT, KLD domain

Gene Aliases

HGNC Name

premelanosome protein

HGNC Previous Symbol

SILV

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001384361.1

p.L10I

c.28C>A

Surrounding Variants

2 papers

NM_001384361.1

p.L10F

c.28C>T

2 papers

NM_001384361.1

p.H11Y

c.31C>T

1 paper

NM_001384361.1

p.M1_C8del8

c.1_23del24

1 paper

NM_001384361.1

p.C8*

c.24C>A

1 paper

NM_001384361.1

p.L12*

c.35T>A

1 paper

NM_001384361.1

p.A13P

c.37G>C

1 paper

NM_001384361.1

p.A13T

c.37G>A

2 papers

NM_001384361.1

p.A13G

c.38C>G

1 paper

NM_001384361.1

p.V14E

c.41T>A

1 paper

NM_001384361.1

p.L5Q

c.14T>A

2 papers

NM_001384361.1

p.V14insFs

c.42dupG

4 papers

NM_001384361.1

p.V4V

c.12G>C