Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.S32N

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
1 paper
NM_022489.4
p.S32N
c.95G>A
Surrounding Variants
1 paper
NM_022489.4
p.S32T
c.95G>C
1 paper
NM_022489.4
p.S32I
c.95G>T
1 paper
NM_022489.4
p.S32R
c.94A>C
1 paper
NM_022489.4
p.S32G
c.94A>G
1 paper
NM_022489.4
p.S32C
c.94A>T
1 paper
NM_022489.4
p.S32R
c.96C>A
1 paper
NM_022489.4
p.S32R
c.96C>G
3 papers
NM_022489.4
p.A33T
c.97G>A
1 paper
NM_022489.4
p.E31E
c.93G>A
1 paper
NM_022489.4
p.E31D
c.93G>C
1 paper
NM_022489.4
p.A33P
c.97G>C
1 paper
NM_022489.4
p.E31D
c.93G>T
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