Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.E4835D

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.E4835D
c.14505G>C
Surrounding Variants
1 paper
NM_152701.5
p.E4835D
c.14505G>T
1 paper
NM_152701.5
p.R4826C
c.14476C>T
1 paper
NM_152701.5
p.L4819P
c.14456T>C
1 paper
NM_152701.5
p.A4808V
c.14423C>T
1 paper
NM_152701.5
p.G4801C
c.14401G>T
2 papers
NM_152701.5
p.T4795T
c.14385G>A
1 paper
NM_152701.5
p.T4795M
c.14384C>T
1 paper
NM_152701.5
p.S4791Y
c.14372C>A
1 paper
NM_152701.5
p.D4789G
c.14366A>G
1 paper
NM_152701.5
p.G4785Splc
c.14355-2A>G
1 paper
NM_152701.5
p.G4785Splc
c.14355-19G>A
1 paper
NM_152701.5
p.G4785Splc
c.14355-32C>A
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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."