Varaico: Literature-Extracted Genetic Variants

Gene:ABCA13
Variant:p.E1359Q

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.E1359Q
c.4075G>C
Surrounding Variants
1 paper
NM_152701.5
p.T1354I
c.4061C>T
1 paper
NM_152701.5
p.C1346W
c.4038T>G
5 papers
NM_152701.5
p.F1344Y
c.4031T>A
1 paper
NM_152701.5
p.T1377S
c.4129A>T
1 paper
NM_152701.5
p.N1336N
c.4008T>C
1 paper
NM_152701.5
p.F1333L
c.3999T>A
1 paper
NM_152701.5
p.I1331M
c.3993A>G
1 paper
NM_152701.5
p.S1389_S1390del1
c.4167_4169delCAG
1 paper
NM_152701.5
p.G1393R
c.4177G>A
1 paper
NM_152701.5
p.I1323V
c.3967A>G
1 paper
NM_152701.5
p.W1397L
c.4190G>T
1 paper
NM_152701.5
p.D1399V
c.4196A>T
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