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.T174A

c.520A>G

Surrounding Variants

1 paper

NM_001384361.1

p.G173E

c.518G>A

1 paper

NM_001384361.1

p.G173W

c.517G>T

2 papers

NM_001384361.1

p.G173R

c.517G>C

5 papers

NM_001384361.1

p.G175S

c.523G>A

1 paper

NM_001384361.1

p.I172T

c.515T>C

1 paper

NM_001384361.1

p.R176K

c.527G>A

1 paper

NM_001384361.1

p.A177V

c.530C>T

1 paper

NM_001384361.1

p.M178fs

c.532_533fs

1 paper

NM_001384361.1

p.G169insFs

c.506dupG

1 paper

NM_001384361.1

p.M178V

c.532A>G

1 paper

NM_001384361.1

p.A177insFs

c.531dupA

1 paper

NM_001384361.1

p.L179P

c.536T>C