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.H245Y

c.733C>T

Surrounding Variants

2 papers

NM_001384361.1

p.H245D

c.733C>G

1 paper

NM_001384361.1

p.L244del1

c.730_731delGAG

1 paper

NM_001384361.1

p.Q243_L244insFs

c.729_730insTT

1 paper

NM_001384361.1

p.P247S

c.739C>T

1 paper

NM_001384361.1

p.S248N

c.743G>A

1 paper

NM_001384361.1

p.Y250_L251insGAF

c.748_752ins9

1 paper

NM_001384361.1

p.Y250H

c.748T>C

1 paper

NM_001384361.1

p.L238_T239del2

c.712_716del6

1 paper

NM_001384361.1

p.R234_T239del6

c.700_716del18

1 paper

NM_001384361.1

p.Q236_L238del3

c.706_713del9

1 paper

NM_001384361.1

p.L251L

c.753G>A

1 paper

NM_001384361.1

p.L238_T239insA

c.712_716ins3