Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.A7V

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.A7V
c.20C>T
Surrounding Variants
1 paper
NM_022489.4
p.A7E
c.20C>A
1 paper
NM_022489.4
p.A7G
c.20C>G
2 papers
NM_022489.4
p.A7T
c.19G>A
1 paper
NM_022489.4
p.A7P
c.19G>C
1 paper
NM_022489.4
p.A7S
c.19G>T
1 paper
NM_022489.4
p.Q8K
c.22C>A
1 paper
NM_022489.4
p.Q8E
c.22C>G
1 paper
NM_022489.4
p.Q8P
c.23A>C
1 paper
NM_022489.4
p.Q8R
c.23A>G
1 paper
NM_022489.4
p.Q8L
c.23A>T
1 paper
NM_022489.4
p.G6D
c.17G>A
1 paper
NM_022489.4
p.G6A
c.17G>C
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