Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.L2558L

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.L2558L
c.7674G>A
Surrounding Variants
1 paper
NM_152701.5
p.Y2559fs
c.7675_7676fs
1 paper
NM_152701.5
p.L2558delFs
c.7674delG
1 paper
NM_152701.5
p.Y2559C
c.7676A>G
1 paper
NM_152701.5
p.Q2563K
c.7687C>A
1 paper
NM_152701.5
p.K2571N
c.7713A>C
1 paper
NM_152701.5
p.K2571N
c.7713A>T
2 papers
NM_152701.5
p.H2543R
c.7628A>G
1 paper
NM_152701.5
p.I2579insFs
c.7735dupA
1 paper
NM_152701.5
p.F2540L
c.7620T>A
1 paper
NM_152701.5
p.F2540L
c.7620T>G
1 paper
NM_152701.5
p.F2540L
c.7618T>C
1 paper
NM_152701.5
p.K2577N
c.7731A>C
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