Varaico: Literature-Extracted Genetic Variants

Gene:AHCTF1
Variant:p.K1386fs

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.K1386fs
c.4156_4157fs
Surrounding Variants
1 paper
NM_001323342.2
p.K1386delFs
c.4157delT
1 paper
NM_001323342.2
p.T1336M
c.4007C>T
1 paper
NM_001323342.2
p.S1326A
c.3976T>G
1 paper
NM_001323342.2
p.S1314A
c.3940T>G
1 paper
NM_001323342.2
p.T1257I
c.3770C>T
1 paper
NM_001323342.2
p.D1248H
c.3742G>C
1 paper
NM_001323342.2
p.S1232L
c.3695C>T
1 paper
NM_001323342.2
p.T1190insFs
c.3569_3570insC
1 paper
NM_001323342.2
p.G1460G
c.4380T>C
2 papers
NM_001323342.2
p.R1476H
c.4427G>A
1 paper
NM_001323342.2
p.L1478P
c.4433T>C
1 paper
NM_001323342.2
p.E1506*
c.4516G>T
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