Varaico: Literature-Extracted Genetic Variants

Gene:AHCTF1
Variant:p.L503F

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.L503F
c.1509A>C
Surrounding Variants
1 paper
NM_001323342.2
p.L503F
c.1509A>T
1 paper
NM_001323342.2
p.R530T
c.1589G>C
1 paper
NM_001323342.2
p.S454G
c.1360A>G
1 paper
NM_001323342.2
p.E452*
c.1354G>T
2 papers
NM_001323342.2
p.D447N
c.1339G>A
1 paper
NM_001323342.2
p.L433S
c.1298T>C
1 paper
NM_001323342.2
p.L416F
c.1248A>T
1 paper
NM_001323342.2
p.L416F
c.1248A>C
1 paper
NM_001323342.2
p.Y408S
c.1223A>C
1 paper
NM_001323342.2
p.R406H
c.1217G>A
1 paper
NM_001323342.2
p.N405S
c.1214A>G
1 paper
NM_001323342.2
p.E596K
c.1786G>A
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