Varaico: Literature-Extracted Genetic Variants

Gene:AQR
Variant:p.P13A

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.P13A
c.37C>G
Surrounding Variants
1 paper
NM_014691.3
p.V11M
c.31G>A
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.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
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