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.L58L

c.174T>A

Surrounding Variants

1 paper

NM_001384361.1

p.D59G

c.176A>G

1 paper

NM_001384361.1

p.R57S

c.171A>T

1 paper

NM_001384361.1

p.C60S

c.178T>A

1 paper

NM_001384361.1

p.W61*

c.183G>A

1 paper

NM_001384361.1

p.R62*

c.184A>T

1 paper

NM_001384361.1

p.Y49_E54del6

c.145_161del18

1 paper

NM_001384361.1

p.W52_T53delFs

c.156_159del4

1 paper

NM_001384361.1

p.G63S

c.187G>A

1 paper

NM_001384361.1

p.E54V

c.161A>T

1 paper

NM_001384361.1

p.E54G

c.161A>G

1 paper

NM_001384361.1

p.E54K

c.160G>A

1 paper

NM_001384361.1

p.Y49_T53delFs

c.145_157del13