Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13

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
1–12 of 851 variants
8 papers
NM_152701.5
p.F1540L
c.4618T>C
7 papers
NM_152701.5
p.F1540L
c.4620T>A
7 papers
NM_152701.5
p.F1540L
c.4620T>G
7 papers
NM_152701.5
p.R4843C
c.14527C>T
5 papers
NM_152701.5
p.F1344Y
c.4031T>A
5 papers
NM_152701.5
p.N2033D
c.6097A>G
5 papers
NM_152701.5
p.S2154L
c.6461C>T
5 papers
NM_152701.5
p.H3609P
c.10826A>C
5 papers
NM_152701.5
p.T4031A
c.12091A>G
5 papers
NM_152701.5
p.T4550A
c.13648A>G
4 papers
NM_152701.5
p.R350*
c.1048C>T
4 papers
NM_152701.5
p.K2306T
c.6917A>C
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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."