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.V21insFs

c.61dupG

Surrounding Variants

1 paper

NM_001384361.1

p.V21L

c.61G>C

1 paper

NM_001384361.1

p.G22W

c.64G>T

6 papers

NM_001384361.1

p.G22R

c.64G>C

10 papers

NM_001384361.1

p.G22R

c.64G>A

2 papers

NM_001384361.1

p.G22A

c.65G>C

2 papers

NM_001384361.1

p.L19del1

c.55_56delCAG

1 paper

NM_001384361.1

p.A23T

c.67G>A

1 paper

NM_001384361.1

p.A23G

c.68C>G

7 papers

NM_001384361.1

p.L18del1

c.52_53delCAA

1 paper

NM_001384361.1

p.A17_L18del0

c.49_54del6

1 paper

NM_001384361.1

p.L18F

c.54G>T

1 paper

NM_001384361.1

p.L18F

c.54G>C