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

6 papers

NM_001384361.1

p.R618C

c.1852C>T

Surrounding Variants

1 paper

NM_001384361.1

p.R619K

c.1856G>A

1 paper

NM_001384361.1

p.F625L

c.1873T>C

1 paper

NM_001384361.1

p.S626F

c.1877C>T

2 papers

NM_001384361.1

p.V627delFs

c.1879delC

1 paper

NM_001384361.1

p.V627delFs

c.1880delA

1 paper

NM_001200054.1

p.S641_S642del0

c.1921_1926del6

1 paper

NM_001384361.1

p.L638L

c.1912C>T

2 papers

NM_001384361.1

p.R639L

c.1916G>T

1 paper

NM_001384361.1

p.L640P

c.1919T>C

2 papers

NM_001384361.1

p.R642H

c.1925G>A

1 paper

NM_001384361.1

p.P641_R642del0

c.1921_1926del6

1 paper

NM_001384361.1

p.C645Y

c.1934G>A