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.L577insFs

c.1729_1730insA

Surrounding Variants

1 paper

NM_005689.4

p.L577F

c.1729C>T

1 paper

NM_005689.4

p.D576_L577insFs

c.1728_1729ins7

1 paper

NM_005689.4

p.D576N

c.1726G>A

1 paper

NM_005689.4

p.P578P

c.1734T>A

13 papers

NM_005689.4

p.G579E

c.1736G>A

1 paper

NM_005689.4

p.V574M

c.1720G>A

2 papers

NM_005689.4

p.R584H

c.1751G>A

1 paper

NM_005689.4

p.L577_Q586del10

c.1729_1757del30

15 papers

NM_005689.4

p.G588S

c.1762G>A

2 papers

NM_005689.4

p.R589H

c.1766G>A

1 paper

NM_005689.4

p.R589R

c.1767T>C

2 papers

NM_005689.4

p.V595M

c.1783G>A