Varaico: Literature-Extracted Genetic Variants

Gene:AHCTF1
Variant:p.D278G

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.D278G
c.833A>G
Surrounding Variants
1 paper
NM_001323342.2
p.Y284S
c.851A>C
1 paper
NM_001323342.2
p.A245V
c.734C>T
1 paper
NM_001323342.2
p.Y243C
c.728A>G
1 paper
NM_001323342.2
p.Q234*
c.700C>T
1 paper
NM_001323342.2
p.E196*
c.586G>T
1 paper
NM_001323342.2
p.E322_G323Splc
c.967-124T>A
1 paper
NM_001323342.2
p.F360_R361delFs
c.1079_1083del5
1 paper
NM_001323342.2
p.E372G
c.1115A>G
1 paper
NM_001323342.2
p.N405S
c.1214A>G
1 paper
NM_001323342.2
p.R406H
c.1217G>A
1 paper
NM_001323342.2
p.Y408S
c.1223A>C
1 paper
NM_001323342.2
p.L416F
c.1248A>T
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