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

2 papers

NM_001349828.2

p.L457P

c.1370T>C

NM_005689.4

p.L503P

c.1508T>C

Surrounding Variants

2 papers

NM_001349828.2

p.V458A

c.1373T>C

NM_005689.4

p.V504A

c.1511T>C

1 paper

NM_001349828.2

p.I459F

c.1375A>T

1 paper

NM_001349828.2

p.I459N

c.1376T>A

1 paper

NM_005689.4

p.Q501P

c.1502A>C

1 paper

NM_001349828.2

p.Q453H

c.1359G>T

1 paper

NM_001349828.2

p.Q453H

c.1359G>C

1 paper

NM_001349828.2

p.L461I

c.1381C>A

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_001349828.2

p.G462E

c.1385G>A

1 paper

NM_001349828.2

p.N452D

c.1354A>G

1 paper

NM_001349828.2

p.L463P

c.1388T>C