Varaico: Literature-Extracted Genetic Variants

Gene:AHCTF1

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
1–12 of 89 variants
2 papers
NM_001323342.2
p.D447N
c.1339G>A
2 papers
NM_001323342.2
p.R1476H
c.4427G>A
1 paper
NM_001323342.2
p.V33G
c.98T>G
1 paper
NM_001323342.2
p.K37T
c.110A>C
1 paper
NM_001323342.2
p.E63A
c.188A>C
1 paper
NM_001323342.2
p.S87F
c.260C>T
1 paper
NM_001323342.2
p.G154*
c.460G>T
1 paper
NM_001323342.2
p.E196*
c.586G>T
1 paper
NM_001323342.2
p.Q234*
c.700C>T
1 paper
NM_001323342.2
p.Y243C
c.728A>G
1 paper
NM_001323342.2
p.A245V
c.734C>T
1 paper
NM_001323342.2
p.D278G
c.833A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."