Varaico: Literature-Extracted Genetic Variants

Gene:AQR
Variant:p.V1126I

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.V1126I
c.3376G>A
Surrounding Variants
1 paper
NM_014691.3
p.E1116Q
c.3346G>C
1 paper
NM_014691.3
p.S1142N
c.3425G>A
1 paper
NM_014691.3
p.H1098Y
c.3292C>T
1 paper
NM_014691.3
p.D1096Y
c.3286G>T
1 paper
NM_014691.3
p.P1081L
c.3242C>T
1 paper
NM_014691.3
p.S1142N
c.3425G>A
1 paper
NM_014691.3
p.C1144*
c.3432C>A
1 paper
NM_014691.3
p.N1145S
c.3434A>G
1 paper
NM_014691.3
p.N1145K
c.3435C>G
1 paper
NM_014691.3
p.N1145K
c.3435C>A
1 paper
NM_014691.3
p.Y1147D
c.3439T>G
1 paper
NM_014691.3
p.D1176Y
c.3526G>T
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