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.Y189S

c.566A>C

Surrounding Variants

1 paper

NM_001384361.1

p.Y189F

c.566A>T

1 paper

NM_001384361.1

p.V186_Y189delFs

c.558_565del8

1 paper

NM_001384361.1

p.H190N

c.568C>A

1 paper

NM_001384361.1

p.H190L

c.569A>T

1 paper

NM_001384361.1

p.H190P

c.569A>C

1 paper

NM_001384361.1

p.R191C

c.571C>T

1 paper

NM_001384361.1

p.H190insFs

c.569_570ins4

1 paper

NM_001384361.1

p.R191_R192ins4

c.571_575ins12

2 papers

NM_001384361.1

p.R191S

c.571C>A

2 papers

NM_001384361.1

p.R192W

c.574C>T

1 paper

NM_001384361.1

p.V186E

c.557T>A

1 paper

NM_001384361.1

p.V186L

c.556G>C