Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.S1119L

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.S1119L
c.3356C>T
Surrounding Variants
2 papers
NM_152701.5
p.V1110I
c.3328G>A
1 paper
NM_152701.5
p.S1129L
c.3386C>T
1 paper
NM_152701.5
p.S1102S
c.3306G>A
1 paper
NM_152701.5
p.S1102L
c.3305C>T
1 paper
NM_152701.5
p.V1137V
c.3411G>A
1 paper
NM_152701.5
p.M1142I
c.3426G>A
1 paper
NM_152701.5
p.M1142I
c.3426G>C
1 paper
NM_152701.5
p.M1142I
c.3426G>T
1 paper
NM_152701.5
p.W1154G
c.3460T>G
1 paper
NM_152701.5
p.M1083K
c.3248T>A
1 paper
NM_152701.5
p.I1161V
c.3481A>G
1 paper
NM_152701.5
p.S1162T
c.3484T>A
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