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.P50_E51ins1

c.150_151insTCT

Surrounding Variants

1 paper

NM_001384361.1

p.P50del1

c.148_149delTGG

1 paper

NM_001384361.1

p.P50_E51del1

c.149_151delCTG

1 paper

NM_001384361.1

p.Y49*

c.147T>G

2 papers

NM_001384361.1

p.Y49Y

c.147T>C

1 paper

NM_001384361.1

p.Y49*

c.147T>A

1 paper

NM_001384361.1

p.L48_E51delFs

c.142_152del11

1 paper

NM_001384361.1

p.Y49F

c.146A>T

1 paper

NM_001384361.1

p.L48del1

c.142_143delCAG

1 paper

NM_001384361.1

p.E51_W52del1

c.152_154delACT

1 paper

NM_001384361.1

p.L48_W52delFs

c.142_154del13

1 paper

NM_001384361.1

p.L48_W52delFs

c.143_155del13

1 paper

NM_001384361.1

p.P50_W52del3

c.148_155del9