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.L431P

c.1292T>C

Surrounding Variants

1 paper

NM_001384361.1

p.E430Q

c.1288G>C

1 paper

NM_001384361.1

p.P434L

c.1301C>T

1 paper

NM_001384361.1

p.E437K

c.1309G>A

1 paper

NM_001384361.1

p.E425A

c.1274A>C

1 paper

NM_001384361.1

p.E425Q

c.1273G>C

1 paper

NM_001384361.1

p.D440H

c.1318G>C

1 paper

NM_001384361.1

p.E422A

c.1265A>C

1 paper

NM_001384361.1

p.E422Q

c.1264G>C

2 papers

NM_001384361.1

p.A441T

c.1321G>A

1 paper

NM_001384361.1

p.A441V

c.1322C>T

1 paper

NM_001384361.1

p.A441A

c.1323C>G

1 paper

NM_001384361.1

p.A415delFs

c.1245delA