Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.L1281*

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
2 papers
NM_152701.5
p.L1281*
c.3842T>G
Surrounding Variants
2 papers
NM_152701.5
p.L1281*
c.3842T>A
1 paper
NM_152701.5
p.L1281I
c.3841T>A
1 paper
NM_152701.5
p.S1295*
c.3884C>A
1 paper
NM_152701.5
p.S1295*
c.3884C>G
1 paper
NM_152701.5
p.Q1266P
c.3797A>C
1 paper
NM_152701.5
p.I1298V
c.3892A>G
1 paper
NM_152701.5
p.D1303H
c.3907G>C
1 paper
NM_152701.5
p.L1248V
c.3742C>G
1 paper
NM_152701.5
p.L1248delFs
c.3743_3744delTT
1 paper
NM_152701.5
p.L1248del1
c.3742_3743delCTT
2 papers
NM_152701.5
p.N1240Y
c.3718A>T
1 paper
NM_152701.5
p.I1323V
c.3967A>G
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