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.T299T

c.897C>G

Surrounding Variants

1 paper

NM_001384361.1

p.T299_S300insFs

c.897_898insA

1 paper

NM_001384361.1

p.T299I

c.896C>T

1 paper

NM_001384361.1

p.S300S

c.900C>G

2 papers

NM_001384361.1

p.P297S

c.889C>T

1 paper

NM_001384361.1

p.C301_G302del2

c.901_905del6

1 paper

NM_001384361.1

p.A295delFs

c.885delG

1 paper

NM_001384361.1

p.A295V

c.884C>T

1 paper

NM_001384361.1

p.A295_I296insTA

c.883_887ins6

4 papers

NM_001384361.1

p.P305S

c.913C>T

3 papers

NM_001384361.1

p.P305R

c.914C>G

1 paper

NM_001384361.1

p.P307S

c.919C>T

1 paper

NM_001384361.1

p.P307R

c.920C>G