Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.R350*

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
4 papers
NM_152701.5
p.R350*
c.1048C>T
Surrounding Variants
1 paper
NM_152701.5
p.R350Q
c.1049G>A
1 paper
NM_152701.5
p.Q353insFs
c.1057_1058ins4
1 paper
NM_152701.5
p.C331C
c.993C>T
1 paper
NM_152701.5
p.D320V
c.959A>T
1 paper
NM_152701.5
p.S316R
c.948C>A
1 paper
NM_152701.5
p.S316R
c.948C>G
1 paper
NM_152701.5
p.S316R
c.946A>C
1 paper
NM_152701.5
p.V313I
c.937G>A
1 paper
NM_152701.5
p.K308*
c.922A>T
1 paper
NM_152701.5
p.D303N
c.907G>A
1 paper
NM_152701.5
p.L376Q
c.1127T>A
1 paper
NM_152701.5
p.A378V
c.1133C>T
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