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.D224N

c.670G>A

Surrounding Variants

1 paper

NM_005689.4

p.V225E

c.674T>A

3 papers

NM_005689.4

p.E220V

c.659A>T

2 papers

NM_005689.4

p.S228R

c.682A>C

1 paper

NM_005689.4

p.E226_R227del2

c.676_680del6

1 paper

NM_005689.4

p.S228N

c.683G>A

2 papers

NM_005689.4

p.S228R

c.684C>G

2 papers

NM_005689.4

p.S228R

c.684C>A

1 paper

NM_005689.4

p.Q217R

c.650A>G

1 paper

NM_005689.4

p.Q229_V230Splc

c.687+10A>G

1 paper

NM_005689.4

p.S213T

c.637T>A

2 papers

NM_005689.4

p.Q212L

c.635A>T

1 paper

NM_005689.4

p.R210H

c.629G>A