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.S196R

c.588C>G

Surrounding Variants

1 paper

NM_001384361.1

p.S196N

c.587G>A

1 paper

NM_001384361.1

p.Y197F

c.590A>T

1 paper

NM_001384361.1

p.S196G

c.586A>G

1 paper

NM_001384361.1

p.V198L

c.592G>T

1 paper

NM_001384361.1

p.V198L

c.592G>C

1 paper

NM_001384361.1

p.V198A

c.593T>C

1 paper

NM_001384361.1

p.S194C

c.581C>G

1 paper

NM_001384361.1

p.S194A

c.580T>G

2 papers

NM_001384361.1

p.A201V

c.602C>T

2 papers

NM_001384361.1

p.R192W

c.574C>T

1 paper

NM_001384361.1

p.A201G

c.602C>G

1 paper

NM_001384361.1

p.R191C

c.571C>T