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

13 papers

NM_005689.4

p.R375W

c.1123C>T

Surrounding Variants

1 paper

NM_005689.4

p.R375L

c.1124G>T

13 papers

NM_005689.4

p.R375Q

c.1124G>A

1 paper

NM_005689.4

p.R375delFs

c.1123delG

1 paper

NM_005689.4

p.R375fs

c.1123_1124fs

2 papers

NM_005689.4

p.A373_R375delFs

c.1118_1124del7

1 paper

NM_005689.4

p.D374A

c.1121A>C

1 paper

NM_005689.4

p.A373fs

c.1117_1118fs

2 papers

NM_005689.4

p.A373A

c.1119G>A

1 paper

NM_005689.4

p.A373V

c.1118C>T

1 paper

NM_005689.4

p.A373fs

c.1117_1118fs

3 papers

NM_005689.4

p.R371Q

c.1112G>A

1 paper

NM_005689.4

p.R371W

c.1111C>T