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

3 papers

NM_005689.4

p.M138V

c.412A>G

Surrounding Variants

1 paper

NM_005689.4

p.M138T

c.413T>C

2 papers

NM_005689.4

p.R135L

c.404G>T

3 papers

NM_005689.4

p.R135S

c.403C>A

1 paper

NM_005689.4

p.F144L

c.430T>C

1 paper

NM_005689.4

p.F144L

c.432C>G

1 paper

NM_005689.4

p.F144L

c.432C>A

1 paper

NM_005689.4

p.Q131*

c.391C>T

1 paper

NM_005689.4

p.R129Q

c.386G>A

1 paper

NM_005689.4

p.S147G

c.439A>G

2 papers

NM_005689.4

p.V126fs

c.376_377fs

3 papers

NM_005689.4

p.V126delFs

c.376delC

1 paper

NM_005689.4

p.L125F

c.373C>T