Varaico: Literature-Extracted Genetic Variants

Gene:AQR
Variant:p.G177delFs

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.G177delFs
c.530delC
Surrounding Variants
1 paper
NM_014691.3
p.G177fs
c.529_530fs
1 paper
NM_014691.3
p.L161L
c.481T>C
1 paper
NM_014691.3
p.E184A
c.551A>C
2 papers
NM_014691.3
p.K195T
c.584A>C
1 paper
NM_014691.3
p.L150I
c.448C>A
1 paper
NM_014691.3
p.H125D
c.373C>G
1 paper
NM_014691.3
p.E240Splc
c.718+4T>A
1 paper
NM_014691.3
p.H278R
c.833A>G
1 paper
NM_014691.3
p.V289F
c.865G>T
1 paper
NM_014691.3
p.R290C
c.868C>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."