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

1 paper

NM_001384361.1

p.W160*

c.479G>A

Surrounding Variants

1 paper

NM_001384361.1

p.Y159_W160delFs

c.475_478del4

2 papers

NM_001384361.1

p.Q161*

c.481C>T

1 paper

NM_001384361.1

p.Y159F

c.476A>T

1 paper

NM_001384361.1

p.Q161P

c.482A>C

1 paper

NM_001384361.1

p.Y159insFs

c.475_476ins4

1 paper

NM_001384361.1

p.V162F

c.484G>T

1 paper

NM_001384361.1

p.V162A

c.485T>C

2 papers

NM_001384361.1

p.G157A

c.470G>C

1 paper

NM_001384361.1

p.G165fs

c.493_494fs

1 paper

NM_001384361.1

p.G165A

c.494G>C

1 paper

NM_001384361.1

p.G165insFs

c.494dupG

1 paper

NM_001384361.1

p.V167ins1

c.499_500insGAC