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.L281_F285del0

c.843_854del12

Surrounding Variants

1 paper

NM_005689.4

p.Y286H

c.856T>C

1 paper

NM_005689.4

p.R287R

c.861G>A

1 paper

NM_005689.4

p.P283S

c.847C>T

2 papers

NM_005689.4

p.V282E

c.845T>A

1 paper

NM_005689.4

p.I289T

c.866T>C

2 papers

NM_005689.4

p.V282M

c.844G>A

1 paper

NM_005689.4

p.N279S

c.836A>G

1 paper

NM_005689.4

p.L278F

c.832C>T

1 paper

NM_005689.4

p.A277V

c.830C>T

4 papers

NM_005689.4

p.R276Q

c.827G>A

20 papers

NM_005689.4

p.R276W

c.826C>T

1 paper

NM_005689.4

p.L263V

c.787C>G