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.Q365H

c.1095G>T

Surrounding Variants

1 paper

NM_001384361.1

p.T361_P363delFs

c.1083_1087del5

1 paper

NM_001384361.1

p.Q365_P367delFs

c.1095_1101del7

1 paper

NM_001384361.1

p.S360_T361del2

c.1078_1082del6

1 paper

NM_001384361.1

p.I359_T361ins1

c.1077_1082dup6

1 paper

NM_001384361.1

p.S360_T361delFs

c.1078_1082del5

3 papers

NM_001384361.1

p.E370D

c.1110G>T

3 papers

NM_001384361.1

p.E370D

c.1110G>C

1 paper

NM_001384361.1

p.P354_E370delFs

c.1061_1109del49

2 papers

NM_001384361.1

p.S371T

c.1112G>C

1 paper

NM_001384361.1

p.S360C

c.1078A>T

1 paper

NM_001384361.1

p.T372A

c.1114A>G

1 paper

NM_001384361.1

p.T372fs

c.1114_1115fs