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.Q526_V527Splc

c.1578+1G>A

Surrounding Variants

1 paper

NM_005689.4

p.Q526_V527Splc

c.1578+5G>C

1 paper

NM_001349828.2

p.Q477R

c.1430A>G

1 paper

NM_001349828.2

p.E476*

c.1426G>T

1 paper

NM_005689.4

p.T521I

c.1562C>T

13 papers

NM_005689.4

p.T521S

c.1562C>G

10 papers

NM_005689.4

p.T521S

c.1561A>T

3 papers

NM_001349828.2

p.T475A

c.1423A>G

NM_005689.4

p.T521A

c.1561A>G

2 papers

NM_005689.4

p.V520fs

c.1558_1559fs

4 papers

NM_005689.4

p.V520insFs

c.1558_1559insT

1 paper

NM_001349828.2

p.F473L

c.1419T>G

1 paper

NM_001349828.2

p.F473L

c.1419T>A

1 paper

NM_005689.4

p.F519S

c.1556T>C