Varaico: Literature-Extracted Genetic Variants

Gene:FANK1
Variant:p.M249R

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
1 paper
NM_145235.5
p.M249R
c.746T>G
Surrounding Variants
1 paper
NM_145235.5
p.E235_V236Splc
c.706-10G>A
1 paper
NM_145235.5
p.A267G
c.800C>G
1 paper
NM_145235.5
p.N272K
c.816T>A
1 paper
NM_145235.5
p.N272K
c.816T>G
1 paper
NM_145235.5
p.F321delFs
c.963delT
1 paper
NM_145235.5
p.R323_Q324delFs
c.969_972del4
1 paper
NM_145235.5
p.Q324*
c.970C>T
1 paper
NM_145235.5
p.V326delFs
c.976delG
1 paper
NM_145235.5
p.E331*
c.991G>T
1 paper
NM_145235.5
p.R333_K334delFs
c.998_1002del5
1 paper
NM_145235.5
p.R333insFs
c.999dupG
2 papers
NM_145235.5
p.K334insFs
c.1000dupA
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