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.R734C

c.2200C>T

Surrounding Variants

1 paper

NM_005689.4

p.R734R

c.2202C>G

1 paper

NM_005689.4

p.V735F

c.2203G>T

1 paper

NM_005689.4

p.V735I

c.2203G>A

1 paper

NM_005689.4

p.K732K

c.2196G>A

1 paper

NM_005689.4

p.K732R

c.2195A>G

4 papers

NM_005689.4

p.G730R

c.2188G>C

4 papers

NM_005689.4

p.G730R

c.2188G>A

4 papers

NM_005689.4

p.G729S

c.2185G>A

1 paper

NM_005689.4

p.S728delFs

c.2184delG

8 papers

NM_005689.4

p.R739C

c.2215C>T

6 papers

NM_005689.4

p.R739H

c.2216G>A

1 paper

NM_005689.4

p.T740A

c.2218A>G