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.N202T

c.605A>C

Surrounding Variants

1 paper

NM_012089.3

p.N210T

c.629A>C

1 paper

NM_012089.3

p.R213C

c.637C>T

1 paper

NM_012089.3

p.A228T

c.682G>A

2 papers

NM_012089.3

p.R242G

c.724C>G

1 paper

NM_012089.3

p.L256V

c.766C>G

1 paper

NM_012089.3

p.D264D

c.792C>T

1 paper

NM_012089.3

p.E270*

c.808G>T

1 paper

NM_012089.3

p.S291*

c.872C>G

1 paper

NM_012089.3

p.S291*

c.872C>A

1 paper

NM_012089.3

p.A298P

c.892G>C

1 paper

NM_012089.3

p.V318D

c.953T>A

1 paper

NM_012089.3

p.V325_S326insA

c.973_977ins3