Varaico: Literature-Extracted Genetic Variants

Gene:AQR

AQR

99 papers

Pfam Domains

Aquarius_N_1staa 22–415UCSCIntron-binding protein aquarius N-terminal
Aquarius_N_2ndaa 493–659UCSCIntron-binding protein aquarius, beta-barrel
Aquarius_N_3rdaa 707–794UCSCIntron-binding protein aquarius insert domain
AAA_11aa 801–1107UCSCAAA domain
AAA_12aa 1115–1308UCSCAAA domain

Gene Aliases

HGNC Name

aquarius intron-binding spliceosomal factor

HGNC Alias Symbols

KIAA0560; fSAP164; IBP160

Papers
RefSeq ID
Protein change
DNA change
1–12 of 106 variants
2 papers
NM_014691.3
p.K195T
c.584A>C
2 papers
NM_014691.3
p.P494L
c.1481C>T
2 papers
NM_014691.3
p.Y938C
c.2813A>G
1 paper
NM_014691.3
p.K9N
c.27G>T
1 paper
NM_014691.3
p.K9N
c.27G>C
1 paper
NM_014691.3
p.V11M
c.31G>A
1 paper
NM_014691.3
p.P13A
c.37C>G
1 paper
NM_014691.3
p.N19N
c.57T>C
1 paper
NM_014691.3
p.V23M
c.67G>A
1 paper
NM_014691.3
p.L26S
c.77T>C
1 paper
NM_014691.3
p.S39*
c.116C>A
1 paper
NM_014691.3
p.L66F
c.196C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."