Varaico: Literature-Extracted Genetic Variants

ABCB6

239 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of t...

Pfam Domains

MTABC_Naa 6–255UCSCMitochondrial ABC-transporter N-terminal five TM region

ABC_membraneaa 265–544UCSCABC transporter transmembrane region

ABC_tranaa 606–755UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 6

HGNC Alias Symbols

EST45597; umat; MTABC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005689.4

p.R256Q

c.767G>A

Surrounding Variants

1 paper

NM_005689.4

p.R256G

c.766C>G

1 paper

NM_005689.4

p.P255R

c.764C>G

1 paper

NM_005689.4

p.W254R

c.760T>C

2 papers

NM_005689.4

p.P259delFs

c.776delG

1 paper

NM_005689.4

p.A260T

c.778G>A

1 paper

NM_005689.4

p.Y252N

c.754T>A

1 paper

NM_005689.4

p.G251C

c.751G>T

1 paper

NM_005689.4

p.L263V

c.787C>G

1 paper

NM_005689.4

p.R247H

c.740G>A

5 papers

NM_005689.4

p.R247C

c.739C>T

1 paper

NM_005689.4

p.R244_K245del2

c.730_734del6

1 paper

NM_005689.4

p.R240Q

c.719G>A