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.V195D

c.584T>A

Surrounding Variants

1 paper

NM_005689.4

p.V194A

c.581T>C

1 paper

NM_005689.4

p.Y193_S196delFs

c.577_586del10

4 papers

NM_005689.4

p.G197_G198insG

c.589_593ins3

1 paper

NM_005689.4

p.G197R

c.589G>C

1 paper

NM_005689.4

p.G197R

c.589G>A

1 paper

NM_005689.4

p.G197E

c.590G>A

17 papers

NM_005689.4

p.R192Q

c.575G>A

14 papers

NM_005689.4

p.R192W

c.574C>T

1 paper

NM_005689.4

p.L191M

c.571C>A

1 paper

NM_005689.4

p.W189delFs

c.565_566delCA

1 paper

NM_005689.4

p.L204R

c.611T>G

2 papers

NM_005689.4

p.G208R

c.622G>C