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.A288V

c.863C>T

Surrounding Variants

3 papers

NM_001384361.1

p.T287I

c.860C>T

1 paper

NM_001384361.1

p.Q289delFs

c.865delG

1 paper

NM_001384361.1

p.V286insFs

c.858dupC

1 paper

NM_001384361.1

p.V290M

c.868G>A

1 paper

NM_001384361.1

p.V290fs

c.868_869fs

1 paper

NM_001384361.1

p.T279_Q289del11

c.835_866del33

1 paper

NM_001384361.1

p.G284_P285delFs

c.852_855del4

1 paper

NM_001384361.1

p.V291L

c.871G>C

1 paper

NM_001384361.1

p.V291I

c.871G>A

1 paper

NM_001384361.1

p.P285S

c.853C>T

1 paper

NM_001384361.1

p.A295_I296insTA

c.883_887ins6

1 paper

NM_001384361.1

p.H278_L281del0

c.834_842del9