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

1–12 of 559 variants

32 papers

NM_005689.4

p.R723Q

c.2168G>A

20 papers

NM_005689.4

p.R276W

c.826C>T

17 papers

NM_005689.4

p.R192Q

c.575G>A

15 papers

NM_005689.4

p.A57T

c.169G>A

15 papers

NM_005689.4

p.G588S

c.1762G>A

14 papers

NM_005689.4

p.R192W

c.574C>T

13 papers

NM_005689.4

p.R375W

c.1123C>T

13 papers

NM_005689.4

p.R375Q

c.1124G>A

13 papers

NM_005689.4

p.A492T

c.1474G>A

13 papers

NM_005689.4

p.T521S

c.1562C>G

13 papers

NM_005689.4

p.G579E

c.1736G>A

12 papers

NM_005689.4

p.L153delFs

c.459delG