Varaico: Literature-Extracted Genetic Variants

Gene:AHCTF1
Variant:p.S2060L

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.S2060L
c.6179C>T
Surrounding Variants
1 paper
NM_001323342.2
p.R1974S
c.5920C>A
1 paper
NM_001323342.2
p.K1905E
c.5713A>G
1 paper
NM_001323342.2
p.I1822insFs
c.5465_5466ins4
1 paper
NM_001323342.2
p.P1658S
c.4972C>T
1 paper
NM_001323342.2
p.Q1649*
c.4945C>T
1 paper
NM_001323342.2
p.S1629T
c.4886G>C
1 paper
NM_001323342.2
p.G1598C
c.4792G>T
1 paper
NM_001323342.2
p.D1569D
c.4707T>C
1 paper
NM_001323342.2
p.Y1546C
c.4637A>G
1 paper
NM_001323342.2
p.R1538G
c.4612A>G
1 paper
NM_001323342.2
p.E1526V
c.4577A>T
1 paper
NM_001323342.2
p.D1512G
c.4535A>G
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