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.P16S

c.46C>T

Surrounding Variants

1 paper

NM_005689.4

p.A17D

c.50C>A

1 paper

NM_005689.4

p.P13L

c.38C>T

2 papers

NM_005689.4

p.M19L

c.55A>T

2 papers

NM_005689.4

p.M19L

c.55A>C

1 paper

NM_005689.4

p.G12W

c.34G>T

1 paper

NM_005689.4

p.G12R

c.34G>A

1 paper

NM_005689.4

p.Q20*

c.58C>T

5 papers

NM_005689.4

p.Q20K

c.58C>A

1 paper

NM_005689.4

p.E9insFs

c.26dupA

1 paper

NM_005689.4

p.E9*

c.25G>T

1 paper

NM_005689.4

p.E9Q

c.25G>C

1 paper

NM_005689.4

p.C8S

c.23G>C