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

3 papers

NM_001384361.1

p.V26Splc

c.77-2A>G

Surrounding Variants

1 paper

NM_001384361.1

p.V26I

c.76G>A

1 paper

NM_001384361.1

p.V26A

c.77T>C

1 paper

NM_001384361.1

p.P27P

c.81C>T

2 papers

NM_001384361.1

p.R28G

c.82A>G

1 paper

NM_001384361.1

p.R28K

c.83G>A

1 paper

NM_001384361.1

p.N29insFs

c.86_87insA

1 paper

NM_001384361.1

p.Q30L

c.89A>T

2 papers

NM_001384361.1

p.D31N

c.91G>A

1 paper

NM_001384361.1

p.W32R

c.94T>C

2 papers

NM_001384361.1

p.L33R

c.98T>G

1 paper

NM_001384361.1

p.V35F

c.103G>T

1 paper

NM_001384361.1

p.V35I

c.103G>A