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

2 papers

NM_001384361.1

p.P315_E318del4

c.943_953del12

Surrounding Variants

1 paper

NM_001384361.1

p.P320S

c.958C>T

1 paper

NM_001384361.1

p.P320R

c.959C>G

1 paper

NM_001384361.1

p.P320H

c.959C>A

1 paper

NM_001384361.1

p.S300_P315delFs

c.899_944del46

1 paper

NM_001384361.1

p.P315T

c.943C>A

4 papers

NM_001384361.1

p.G325V

c.974G>T

1 paper

NM_001384361.1

p.G325insFs

c.974dupG

1 paper

NM_001384361.1

p.Q326K

c.976C>A

2 papers

NM_001384361.1

p.D311G

c.932A>G

1 paper

NM_001384361.1

p.T310I

c.929C>T

1 paper

NM_001384361.1

p.P307_G308insFs

c.921_922ins4

1 paper

NM_001384361.1

p.P307R

c.920C>G