Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.A13T

INF2

339 papers

RefSeq Summary

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded prot...

Pfam Domains

Drf_GBDaa 6–152UCSCDiaphanous GTPase-binding Domain
Drf_FH3aa 158–337UCSCDiaphanous FH3 Domain
FH2aa 554–921UCSCFormin Homology 2 Domain
WH2aa 974–991UCSCWH2 motif

Gene Aliases

HGNC Name

inverted formin 2

HGNC Previous Symbols

C14orf151; C14orf173

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_022489.4
p.A13T
c.37G>A
Surrounding Variants
1 paper
NM_022489.4
p.A13P
c.37G>C
1 paper
NM_022489.4
p.A13S
c.37G>T
2 papers
NM_022489.4
p.A13E
c.38C>A
1 paper
NM_022489.4
p.A13G
c.38C>G
1 paper
NM_022489.4
p.A13V
c.38C>T
2 papers
NM_022489.4
p.A12E
c.35C>A
1 paper
NM_022489.4
p.A12G
c.35C>G
1 paper
NM_022489.4
p.A12V
c.35C>T
1 paper
NM_022489.4
p.L14M
c.40C>A
2 papers
NM_022489.4
p.L14V
c.40C>G
1 paper
NM_022489.4
p.A12T
c.34G>A
1 paper
NM_022489.4
p.A12P
c.34G>C
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