Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.A28T

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.A28T
c.82G>A
Surrounding Variants
1 paper
NM_022489.4
p.A28P
c.82G>C
1 paper
NM_022489.4
p.A28S
c.82G>T
1 paper
NM_022489.4
p.A28D
c.83C>A
1 paper
NM_022489.4
p.A28G
c.83C>G
1 paper
NM_022489.4
p.A28V
c.83C>T
1 paper
NM_022489.4
p.E27D
c.81G>C
1 paper
NM_022489.4
p.E27D
c.81G>T
1 paper
NM_022489.4
p.E27A
c.80A>C
1 paper
NM_022489.4
p.E27G
c.80A>G
1 paper
NM_022489.4
p.E27V
c.80A>T
1 paper
NM_022489.4
p.N29H
c.85A>C
1 paper
NM_022489.4
p.N29D
c.85A>G
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