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.Q183H

c.549G>C

Surrounding Variants

1 paper

NM_005689.4

p.Q183H

c.549G>T

2 papers

NM_005689.4

p.Q183P

c.548A>C

1 paper

NM_005689.4

p.Q183delFs

c.547delG

3 papers

NM_005689.4

p.A176G

c.527C>G

1 paper

NM_005689.4

p.Q172L

c.515A>T

1 paper

NM_005689.4

p.Q172*

c.514C>T

1 paper

NM_005689.4

p.P171delFs

c.513delT

12 papers

NM_005689.4

p.S170G

c.508A>G

3 papers

NM_005689.4

p.A164T

c.490G>A

1 paper

NM_005689.4

p.E161*

c.481G>T

1 paper

NM_005689.4

p.Q183_V184Splc

c.549+72C>G

1 paper

NM_005689.4

p.A159P

c.475G>C