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.N229_K230delFs

c.686_689del4

Surrounding Variants

1 paper

NM_001384361.1

p.N229delFs

c.686_687delGT

3 papers

NM_001384361.1

p.N229S

c.686A>G

1 paper

NM_001384361.1

p.N229T

c.686A>C

1 paper

NM_001384361.1

p.L233L

c.699G>C

1 paper

NM_001384361.1

p.G227*

c.679G>T

1 paper

NM_001384361.1

p.K230_R234delins

c.690_702delinsCACCTGAACCCCC

1 paper

NM_001384361.1

p.D226A

c.677A>C

3 papers

NM_001384361.1

p.N235T

c.704A>C

1 paper

NM_001384361.1

p.R223Q

c.668G>A

1 paper

NM_001384361.1

p.L238_T239insA

c.712_716ins3

1 paper

NM_001384361.1

p.R223W

c.667C>T

1 paper

NM_001384361.1

p.Q236_L238del3

c.706_713del9