Varaico: Literature-Extracted Genetic Variants

Gene:FANK1
Variant:p.K334insFs

FANK1

37 papers

Pfam Domains

Ank_2aa 114–207UCSCAnkyrin repeats (3 copies)
Ank_2aa 214–308UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

fibronectin type III and ankyrin repeat domains 1

HGNC Previous Name

fibronectin type 3 and ankyrin repeat domains 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_145235.5
p.K334insFs
c.1000dupA
Surrounding Variants
1 paper
NM_145235.5
p.R333insFs
c.999dupG
1 paper
NM_145235.5
p.R333_K334delFs
c.998_1002del5
1 paper
NM_145235.5
p.K336fs
c.1006_1007fs
1 paper
NM_145235.5
p.E331*
c.991G>T
1 paper
NM_145235.5
p.Q337*
c.1009C>T
1 paper
NM_145235.5
p.Q337fs
c.1009_1010fs
1 paper
NM_145235.5
p.V326delFs
c.976delG
1 paper
NM_145235.5
p.Q324*
c.970C>T
1 paper
NM_145235.5
p.R323_Q324delFs
c.969_972del4
1 paper
NM_145235.5
p.F321delFs
c.963delT
1 paper
NM_145235.5
p.N272K
c.816T>A
1 paper
NM_145235.5
p.N272K
c.816T>G
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