Varaico: Literature-Extracted Genetic Variants

Gene:AQR
Variant:p.I415F

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.I415F
c.1243A>T
Surrounding Variants
1 paper
NM_014691.3
p.R410P
c.1229G>C
1 paper
NM_014691.3
p.R410C
c.1228C>T
1 paper
NM_014691.3
p.P425S
c.1273C>T
1 paper
NM_014691.3
p.G446R
c.1336G>C
1 paper
NM_014691.3
p.G446R
c.1336G>A
1 paper
NM_014691.3
p.L387M
c.1159T>A
1 paper
NM_014691.3
p.L450F
c.1348C>T
1 paper
NM_014691.3
p.A451S
c.1351G>T
1 paper
NM_014691.3
p.R474C
c.1420C>T
2 papers
NM_014691.3
p.P494L
c.1481C>T
1 paper
NM_014691.3
p.A508V
c.1523C>T
1 paper
NM_014691.3
p.V519V
c.1557C>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."