Varaico: Literature-Extracted Genetic Variants

Gene:AHCTF1
Variant:p.Y702H

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.Y702H
c.2104T>C
Surrounding Variants
1 paper
NM_001323342.2
p.Q700H
c.2100G>T
1 paper
NM_001323342.2
p.I699N
c.2096T>A
1 paper
NM_001323342.2
p.N695I
c.2084A>T
1 paper
NM_001323342.2
p.L689M
c.2065T>A
1 paper
NM_001323342.2
p.V659I
c.1975G>A
1 paper
NM_001323342.2
p.F657I
c.1969T>A
1 paper
NM_001323342.2
p.P604delFs
c.1812delT
1 paper
NM_001323342.2
p.N821I
c.2462A>T
1 paper
NM_001323342.2
p.D822G
c.2465A>G
1 paper
NM_001323342.2
p.N874S
c.2621A>G
1 paper
NM_001323342.2
p.E596K
c.1786G>A
1 paper
NM_001323342.2
p.R530T
c.1589G>C
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