Varaico: Literature-Extracted Genetic Variants

Gene:FANK1
Variant:p.R158Splc

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.R158Splc
c.474-42C>A
Surrounding Variants
1 paper
NM_145235.5
p.S165C
c.494C>G
1 paper
NM_145235.5
p.L148_V150del3
c.442_449del9
1 paper
NM_145235.5
p.R128insFs
c.382_383ins10
1 paper
NM_145235.5
p.V127insFs
c.380_381insTG
1 paper
NM_145235.5
p.E112A
c.335A>C
1 paper
NM_145235.5
p.R106delFs
c.317delG
1 paper
NM_145235.5
p.C211delFs
c.631_632delTG
1 paper
NM_145235.5
p.C211fs
c.631_632fs
1 paper
NM_145235.5
p.E235D
c.705G>C
1 paper
NM_145235.5
p.E235D
c.705G>T
1 paper
NM_145235.5
p.E235_V236Splc
c.705+3A>T
1 paper
NM_145235.5
p.R106Splc
c.316+5G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."