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.P102S

c.304C>T

Surrounding Variants

2 papers

NM_005689.4

p.A101fs

c.301_302fs

1 paper

NM_005689.4

p.A101A

c.303C>A

1 paper

NM_005689.4

p.A101G

c.302C>G

1 paper

NM_005689.4

p.A101insFs

c.301_302insG

1 paper

NM_005689.4

p.R99Q

c.296G>A

1 paper

NM_005689.4

p.P104P

c.312A>G

1 paper

NM_005689.4

p.A98A

c.294C>G

1 paper

NM_005689.4

p.Y106C

c.317A>G

1 paper

NM_005689.4

p.Y106Y

c.318T>C

1 paper

NM_005689.4

p.L107Q

c.320T>A

2 papers

NM_005689.4

p.L108H

c.323T>A

1 paper

NM_005689.4

p.V95A

c.284T>C