Varaico: Literature-Extracted Genetic Variants

Gene:FANK1
Variant:p.R46S

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.R46S
c.138G>C
Surrounding Variants
1 paper
NM_145235.5
p.R46S
c.138G>T
2 papers
NM_145235.5
p.E52del1
c.154_155delGAA
1 paper
NM_145235.5
p.T21N
c.62C>A
1 paper
NM_145235.5
p.V17delFs
c.50delT
2 papers
NM_145235.5
p.P12L
c.35C>T
1 paper
NM_145235.5
p.M7I
c.21G>A
1 paper
NM_145235.5
p.R78K
c.233G>A
1 paper
NM_145235.5
p.R84C
c.250C>T
2 papers
NM_145235.5
p.R84H
c.251G>A
1 paper
NM_145235.5
p.V87I
c.259G>A
1 paper
NM_145235.5
p.L99L
c.297C>T
1 paper
NM_145235.5
p.R106Splc
c.316+5G>A
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