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.M184V

c.550A>G

Surrounding Variants

1 paper

NM_001384361.1

p.M184I

c.552G>T

1 paper

NM_001384361.1

p.M184I

c.552G>C

1 paper

NM_001384361.1

p.M184I

c.552G>A

3 papers

NM_001384361.1

p.M184_E185insFs

c.552_553ins4

1 paper

NM_001384361.1

p.V186L

c.556G>C

1 paper

NM_001384361.1

p.V186E

c.557T>A

1 paper

NM_001384361.1

p.G180G

c.540C>T

1 paper

NM_001384361.1

p.G180A

c.539G>C

1 paper

NM_001384361.1

p.G180S

c.538G>A

1 paper

NM_001384361.1

p.L179P

c.536T>C

1 paper

NM_001384361.1

p.Y189F

c.566A>T

1 paper

NM_001384361.1

p.Y189S

c.566A>C