Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.N110H

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
2 papers
NM_022489.4
p.N110H
c.328A>C
Surrounding Variants
1 paper
NM_022489.4
p.N110D
c.328A>G
1 paper
NM_022489.4
p.N110Y
c.328A>T
1 paper
NM_022489.4
p.N110T
c.329A>C
1 paper
NM_022489.4
p.N110S
c.329A>G
1 paper
NM_022489.4
p.N110I
c.329A>T
1 paper
NM_022489.4
p.M109I
c.327G>A
1 paper
NM_022489.4
p.M109I
c.327G>C
1 paper
NM_022489.4
p.M109I
c.327G>T
1 paper
NM_022489.4
p.N110K
c.330C>A
1 paper
NM_022489.4
p.N110K
c.330C>G
1 paper
NM_022489.4
p.M109K
c.326T>A
3 papers
NM_022489.4
p.M109T
c.326T>C
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