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.M1V

c.1A>G

Surrounding Variants

2 papers

NM_001384361.1

p.M1T

c.2T>C

1 paper

NM_001384361.1

p.M1K

c.2T>A

2 papers

NM_001384361.1

p.M1insFs

c.2dupT

1 paper

NM_001384361.1

p.M1_D2insFs

c.3_4insA

1 paper

NM_001384361.1

p.M1insFs

c.3dupG

1 paper

NM_001384361.1

p.L3L

c.7C>T

1 paper

NM_001384361.1

p.M1_L3delFs

c.1_8del8

4 papers

NM_001384361.1

p.V4V

c.12G>C

1 paper

NM_001384361.1

p.L5Q

c.14T>A

1 paper

NM_001384361.1

p.C8*

c.24C>A

1 paper

NM_001384361.1

p.M1_C8del8

c.1_23del24

2 papers

NM_001384361.1

p.L10F

c.28C>T