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

32 papers

NM_005689.4

p.R723Q

c.2168G>A

Surrounding Variants

4 papers

NM_005689.4

p.R723W

c.2167C>T

2 papers

NM_005689.4

p.Q719*

c.2155C>T

4 papers

NM_005689.4

p.G729S

c.2185G>A

1 paper

NM_005689.4

p.S728delFs

c.2184delG

4 papers

NM_005689.4

p.G730R

c.2188G>C

4 papers

NM_005689.4

p.G730R

c.2188G>A

1 paper

NM_005689.4

p.Y716*

c.2148C>G

1 paper

NM_005689.4

p.Y716*

c.2148C>A

1 paper

NM_005689.4

p.G715E

c.2144G>A

1 paper

NM_005689.4

p.K732R

c.2195A>G

1 paper

NM_005689.4

p.K732K

c.2196G>A

1 paper

NM_005689.4

p.R734C

c.2200C>T