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.L494P

c.1481T>C

Surrounding Variants

1 paper

NM_001349828.2

p.V449F

c.1345G>T

1 paper

NM_005689.4

p.V495L

c.1483G>C

1 paper

NM_001349828.2

p.S447L

c.1340C>T

1 paper

NM_001349828.2

p.S447P

c.1339T>C

13 papers

NM_005689.4

p.A492T

c.1474G>A

1 paper

NM_001349828.2

p.N452D

c.1354A>G

1 paper

NM_005689.4

p.Q499L

c.1496A>T

2 papers

NM_001349828.2

p.Q453R

c.1358A>G

NM_005689.4

p.Q499R

c.1496A>G

1 paper

NM_005689.4

p.K489R

c.1466A>G

1 paper

NM_001349828.2

p.Q453H

c.1359G>T

1 paper

NM_001349828.2

p.Q453H

c.1359G>C

1 paper

NM_005689.4

p.W488*

c.1464G>A