Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.H3609P

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
5 papers
NM_152701.5
p.H3609P
c.10826A>C
Surrounding Variants
2 papers
NM_152701.5
p.R3604Q
c.10811G>A
1 paper
NM_152701.5
p.M3603T
c.10808T>C
1 paper
NM_152701.5
p.L3654insFs
c.10961dupT
1 paper
NM_152701.5
p.G3658R
c.10972G>A
1 paper
NM_152701.5
p.G3658R
c.10972G>C
1 paper
NM_152701.5
p.G3658E
c.10973G>A
1 paper
NM_152701.5
p.F3671fs
c.11011_11012fs
1 paper
NM_152701.5
p.A3678V
c.11033C>T
1 paper
NM_152701.5
p.Y3686H
c.11056T>C
1 paper
NM_152701.5
p.L3691M
c.11071C>A
1 paper
NM_152701.5
p.L3691V
c.11071C>G
1 paper
NM_152701.5
p.Q3702K
c.11104C>A
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