Varaico: Literature-Extracted Genetic Variants

ABCB10

77 papers

RefSeq Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellul...

Pfam Domains

ABC_membraneaa 171–442UCSCABC transporter transmembrane region

ABC_tranaa 510–662UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 10

HGNC Alias Symbols

EST20237; M-ABC2; MTABC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012089.3

p.A500T

c.1498G>A

Surrounding Variants

2 papers

NM_012089.3

p.V497M

c.1489G>A

1 paper

NM_012089.3

p.Q489H

c.1467G>T

1 paper

NM_012089.3

p.Q489H

c.1467G>C

1 paper

NM_012089.3

p.D512A

c.1535A>C

1 paper

NM_012089.3

p.G480G

c.1440G>T

1 paper

NM_012089.3

p.S519L

c.1556C>T

1 paper

NM_012089.3

p.V526L

c.1576G>C

1 paper

NM_012089.3

p.K533E

c.1597A>G

1 paper

NM_012089.3

p.D545N

c.1633G>A

1 paper

NM_012089.3

p.N478N

c.1434C>T

3 papers

NM_012089.3

p.R471T

c.1412G>C

1 paper

NM_012089.3

p.E467delFs

c.1399delC