Varaico: Literature-Extracted Genetic Variants

Gene:AQR
Variant:p.A858V

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
Selected Variant
1 paper
NM_014691.3
p.A858V
c.2573C>T
Surrounding Variants
1 paper
NM_014691.3
p.Q861R
c.2582A>G
1 paper
NM_014691.3
p.E889fs
c.2665_2666fs
1 paper
NM_014691.3
p.H842H
c.2526C>T
1 paper
NM_014691.3
p.V834L
c.2500G>C
1 paper
NM_014691.3
p.L909F
c.2727A>T
1 paper
NM_014691.3
p.L909F
c.2727A>C
1 paper
NM_014691.3
p.P922S
c.2764C>T
2 papers
NM_014691.3
p.Y938C
c.2813A>G
1 paper
NM_014691.3
p.R943H
c.2828G>A
1 paper
NM_014691.3
p.E972D
c.2916A>T
1 paper
NM_014691.3
p.E972D
c.2916A>C
1 paper
NM_014691.3
p.A994T
c.2980G>A
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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."