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.T210A

c.628A>G

Surrounding Variants

1 paper

NM_001384361.1

p.T208A

c.622A>G

1 paper

NM_001384361.1

p.F207L

c.621C>G

1 paper

NM_001384361.1

p.F207L

c.621C>A

1 paper

NM_001384361.1

p.F207L

c.619T>C

1 paper

NM_001384361.1

p.S205L

c.614C>T

1 paper

NM_001384361.1

p.S203S

c.609C>T

1 paper

NM_001384361.1

p.H202Q

c.606T>G

1 paper

NM_001384361.1

p.H202Q

c.606T>A

2 papers

NM_001384361.1

p.A201V

c.602C>T

1 paper

NM_001384361.1

p.A201G

c.602C>G

1 paper

NM_001384361.1

p.V198A

c.593T>C

1 paper

NM_001384361.1

p.V198L

c.592G>T