Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.A33V

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.A33V
c.98C>T
Surrounding Variants
1 paper
NM_022489.4
p.A33E
c.98C>A
1 paper
NM_022489.4
p.A33G
c.98C>G
3 papers
NM_022489.4
p.A33T
c.97G>A
1 paper
NM_022489.4
p.A33P
c.97G>C
1 paper
NM_022489.4
p.A33S
c.97G>T
1 paper
NM_022489.4
p.S32R
c.96C>A
1 paper
NM_022489.4
p.S32R
c.96C>G
1 paper
NM_022489.4
p.D34N
c.100G>A
1 paper
NM_022489.4
p.D34H
c.100G>C
1 paper
NM_022489.4
p.D34Y
c.100G>T
1 paper
NM_022489.4
p.D34A
c.101A>C
1 paper
NM_022489.4
p.D34G
c.101A>G
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