Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.L1682V

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.L1682V
c.5044C>G
Surrounding Variants
1 paper
NM_152701.5
p.Q1681*
c.5041C>T
1 paper
NM_152701.5
p.V1679M
c.5035G>A
1 paper
NM_152701.5
p.N1688K
c.5064C>A
1 paper
NM_152701.5
p.N1688K
c.5064C>G
1 paper
NM_152701.5
p.K1661N
c.4983G>C
1 paper
NM_152701.5
p.K1661N
c.4983G>T
1 paper
NM_152701.5
p.K1661T
c.4982A>C
1 paper
NM_152701.5
p.L1709P
c.5126T>C
1 paper
NM_152701.5
p.A1717V
c.5150C>T
1 paper
NM_152701.5
p.H1721R
c.5162A>G
1 paper
NM_152701.5
p.N1724T
c.5171A>C
1 paper
NM_152701.5
p.V1725delFs
c.5175delT
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