Varaico: Literature-Extracted Genetic Variants

Gene:ABCB10
Variant:p.R395W

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
2 papers
NM_012089.3
p.R395W
c.1183C>T
Surrounding Variants
1 paper
NM_012089.3
p.A394T
c.1180G>A
1 paper
NM_012089.3
p.A392V
c.1175C>T
1 paper
NM_012089.3
p.A392T
c.1174G>A
1 paper
NM_012089.3
p.A388G
c.1163C>G
1 paper
NM_012089.3
p.A388E
c.1163C>A
1 paper
NM_012089.3
p.Q386R
c.1157A>G
1 paper
NM_012089.3
p.G368W
c.1102G>T
1 paper
NM_012089.3
p.E355D
c.1065G>T
1 paper
NM_012089.3
p.E355D
c.1065G>C
1 paper
NM_012089.3
p.E355K
c.1063G>A
1 paper
NM_012089.3
p.Q352_L353Splc
c.1057-4C>A
1 paper
NM_012089.3
p.S405Y
c.1214C>A
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