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.V353E

c.1058T>A

Surrounding Variants

1 paper

NM_001384361.1

p.V351V

c.1053G>A

1 paper

NM_001384361.1

p.S350A

c.1048T>G

1 paper

NM_001384361.1

p.E357A

c.1070A>C

1 paper

NM_001384361.1

p.S346_G347del1

c.1038_1040delCCA

1 paper

NM_001384361.1

p.S346Fs

c.1038delinsTTCGATTTTGGGTTCTGGTCCTCGGTCAGGTCCFs

1 paper

NM_001384361.1

p.G347R

c.1039G>A

1 paper

NM_001384361.1

p.Q339_S346delins

c.1015_1038delinsTTCGATTTTGGGTTCTGGTCCTCGGTCAGGTCC

1 paper

NM_001384361.1

p.S360C

c.1078A>T

1 paper

NM_001384361.1

p.I359_T361ins1

c.1077_1082dup6

1 paper

NM_001384361.1

p.S360_T361delFs

c.1078_1082del5

1 paper

NM_001384361.1

p.S360_T361del2

c.1078_1082del6

1 paper

NM_001384361.1

p.E344delFs

c.1031delT