Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.A378V

ABCA13

366 papers

RefSeq Summary

In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA ...

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 13

HGNC Alias Symbols

FLJ33876; FLJ33951

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152701.5
p.A378V
c.1133C>T
Surrounding Variants
1 paper
NM_152701.5
p.L379F
c.1135C>T
1 paper
NM_152701.5
p.L376Q
c.1127T>A
1 paper
NM_152701.5
p.E394*
c.1180G>T
1 paper
NM_152701.5
p.A395T
c.1183G>A
1 paper
NM_152701.5
p.L403R
c.1208T>G
1 paper
NM_152701.5
p.G411D
c.1232G>A
1 paper
NM_152701.5
p.D414N
c.1240G>A
1 paper
NM_152701.5
p.H416delFs
c.1248delT
1 paper
NM_152701.5
p.K420N
c.1260G>T
1 paper
NM_152701.5
p.Q353insFs
c.1057_1058ins4
1 paper
NM_152701.5
p.R350Q
c.1049G>A
4 papers
NM_152701.5
p.R350*
c.1048C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."