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.V14E

c.41T>A

Surrounding Variants

2 papers

NM_001384361.1

p.V14insFs

c.42dupG

2 papers

NM_001384361.1

p.A13G

c.38C>G

1 paper

NM_001384361.1

p.A13P

c.37G>C

1 paper

NM_001384361.1

p.A13T

c.37G>A

1 paper

NM_001384361.1

p.L12*

c.35T>A

1 paper

NM_001384361.1

p.A17T

c.49G>A

1 paper

NM_001384361.1

p.G16delFs

c.48delA

2 papers

NM_001384361.1

p.H11Y

c.31C>T

1 paper

NM_001384361.1

p.A17_L18del1

c.50_52delAAG

1 paper

NM_001384361.1

p.L18F

c.54G>T

1 paper

NM_001384361.1

p.L18F

c.54G>C

2 papers

NM_001384361.1

p.L10F

c.28C>T