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.V4delFs

c.11_12delCA

Surrounding Variants

1 paper

NM_005689.4

p.V4fs

c.10_11fs

1 paper

NM_005689.4

p.N6S

c.17A>G

1 paper

NM_005689.4

p.T3S

c.8C>G

1 paper

NM_005689.4

p.N6insFs

c.16dupA

1 paper

NM_005689.4

p.N6K

c.18C>A

3 papers

NM_005689.4

p.Y7C

c.20A>G

1 paper

NM_005689.4

p.C8G

c.22T>G

1 paper

NM_005689.4

p.C8S

c.22T>A

2 papers

NM_005689.4

p.V2M

c.4G>A

1 paper

NM_005689.4

p.C8S

c.23G>C

1 paper

NM_005689.4

p.M1R

c.2T>G

1 paper

NM_005689.4

p.M1T

c.2T>C