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.F215L

c.645C>G

Surrounding Variants

1 paper

NM_001384361.1

p.F215L

c.645C>A

1 paper

NM_001384361.1

p.F215L

c.643T>C

5 papers

NM_001384361.1

p.V213G

c.638T>G

1 paper

NM_001384361.1

p.V213A

c.638T>C

1 paper

NM_001384361.1

p.S218N

c.653G>A

1 paper

NM_001384361.1

p.V219L

c.655G>T

1 paper

NM_001384361.1

p.V219L

c.655G>C

2 papers

NM_001384361.1

p.D211A

c.632A>C

1 paper

NM_001384361.1

p.D211N

c.631G>A

1 paper

NM_001384361.1

p.V217_S220delFs

c.650_659del10

1 paper

NM_001384361.1

p.Q221*

c.661C>T

1 paper

NM_001384361.1

p.Q221_L222insFs

c.663_664insTT