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

1–12 of 496 variants

10 papers

NM_001384361.1

p.G22R

c.64G>A

7 papers

NM_001384361.1

p.L18del1

c.52_53delCAA

7 papers

NM_001384361.1

p.V600E

c.1799T>A

6 papers

NM_001384361.1

p.G22R

c.64G>C

6 papers

NM_001384361.1

p.R618C

c.1852C>T

5 papers

NM_001384361.1

p.G175S

c.523G>A

5 papers

NM_001384361.1

p.V213G

c.638T>G

4 papers

NM_001384361.1

p.V4V

c.12G>C

4 papers

NM_001384361.1

p.P305S

c.913C>T

4 papers

NM_001384361.1

p.G325V

c.974G>T

3 papers

NM_001384361.1

p.V26Splc

c.76+1G>C

3 papers

NM_001384361.1

p.V26Splc

c.77-2A>G