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.G367E

c.1100G>A

Surrounding Variants

2 papers

NM_005689.4

p.R365H

c.1094G>A

1 paper

NM_005689.4

p.R364H

c.1091G>A

2 papers

NM_005689.4

p.R364C

c.1090C>T

1 paper

NM_005689.4

p.R371W

c.1111C>T

1 paper

NM_005689.4

p.V369_L370delFs

c.1106_1110del5

3 papers

NM_005689.4

p.R371Q

c.1112G>A

2 papers

NM_005689.4

p.G363E

c.1088G>A

1 paper

NM_005689.4

p.A373fs

c.1117_1118fs

1 paper

NM_005689.4

p.H361Q

c.1083C>G

1 paper

NM_005689.4

p.H361Q

c.1083C>A

1 paper

NM_005689.4

p.A373V

c.1118C>T

1 paper

NM_005689.4

p.A373fs

c.1117_1118fs