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.Q589delFs

c.1765delG

Surrounding Variants

2 papers

NM_001384361.1

p.G588D

c.1763G>A

2 papers

NM_001384361.1

p.G588Splc

c.1763-1G>A

1 paper

NM_001200054.1

p.Q602insFs

c.1805_1806insA

1 paper

NM_001384361.1

p.V600L

c.1798G>T

1 paper

NM_001384361.1

p.V600L

c.1798G>C

3 papers

NM_001384361.1

p.V600M

c.1798G>A

2 papers

NM_001384361.1

p.V600G

c.1799T>G

1 paper

NM_001384361.1

p.V600A

c.1799T>C

7 papers

NM_001384361.1

p.V600E

c.1799T>A

1 paper

NM_001384361.1

p.I602insFs

c.1805_1806insA

1 paper

NM_001384361.1

p.L603insFs

c.1807dupT

1 paper

NM_001384361.1

p.L603fs

c.1807_1808fs