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.A159P

c.475G>C

Surrounding Variants

1 paper

NM_005689.4

p.A157V

c.470C>T

1 paper

NM_005689.4

p.E161*

c.481G>T

1 paper

NM_005689.4

p.W154fs

c.460_461fs

12 papers

NM_005689.4

p.L153delFs

c.459delG

3 papers

NM_005689.4

p.A164T

c.490G>A

3 papers

NM_005689.4

p.W154fs

c.460_461fs

1 paper

NM_005689.4

p.L151V

c.451C>G

12 papers

NM_005689.4

p.S170G

c.508A>G

1 paper

NM_005689.4

p.S147G

c.439A>G

1 paper

NM_005689.4

p.Q172*

c.514C>T

1 paper

NM_005689.4

p.P171delFs

c.513delT

1 paper

NM_005689.4

p.Q172L

c.515A>T