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

1–12 of 72 variants

6 papers

NM_012089.3

p.A150S

c.448G>T

3 papers

NM_012089.3

p.R471T

c.1412G>C

2 papers

NM_012089.3

p.R242G

c.724C>G

2 papers

NM_012089.3

p.R395W

c.1183C>T

2 papers

NM_012089.3

p.V497M

c.1489G>A

1 paper

NM_012089.3

p.M1L

c.1A>T

1 paper

NM_012089.3

p.E13Q

c.37G>C

1 paper

NM_012089.3

p.L46Q

c.137T>A

1 paper

NM_012089.3

p.W68*

c.204G>A

1 paper

NM_012089.3

p.C72W

c.216C>G

1 paper

NM_012089.3

p.G109insFs

c.325_326insA

1 paper

NM_012089.3

p.G109fs

c.325_326fs