Varaico: Literature-Extracted Genetic Variants

Gene:AHCTF1
Variant:p.Q898Q

AHCTF1

87 papers

Pfam Domains

ELYS-bbaa 1–489UCSCbeta-propeller of ELYS nucleoporin
ELYSaa 722–945UCSCNuclear pore complex assembly

Gene Aliases

HGNC Name

AT-hook containing transcription factor 1

HGNC Alias Symbol

ELYS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001323342.2
p.Q898Q
c.2694A>G
Surrounding Variants
1 paper
NM_001323342.2
p.N894_F895insFs
c.2682_2683insT
1 paper
NM_001323342.2
p.M912V
c.2734A>G
1 paper
NM_001323342.2
p.K940K
c.2820A>G
1 paper
NM_015446.5
p.M988_N989Splc
c.2964+4C>T
1 paper
NM_001323342.2
p.R1009Q
c.3026G>A
1 paper
NM_001323342.2
p.I1013F
c.3037A>T
1 paper
NM_001323342.2
p.N874S
c.2621A>G
1 paper
NM_001323342.2
p.P1077ins5
c.3229_3230ins15
1 paper
NM_001323342.2
p.I1083V
c.3247A>G
1 paper
NM_001323342.2
p.I1083M
c.3249A>G
1 paper
NM_001323342.2
p.D822G
c.2465A>G
1 paper
NM_001323342.2
p.N821I
c.2462A>T
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