Varaico: Literature-Extracted Genetic Variants

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.Y176H

c.526T>C

Surrounding Variants

9 papers

NM_022489.4

p.R177C

c.529C>T

13 papers

NM_022489.4

p.R177H

c.530G>A

1 paper

NM_022489.4

p.R177P

c.530G>C

3 papers

NM_022489.4

p.F178S

c.533T>C

1 paper

NM_022489.4

p.C172S

c.515G>C

1 paper

NM_022489.4

p.C172F

c.515G>T

1 paper

NM_022489.4

p.C172S

c.514T>A

1 paper

NM_022489.4

p.C172R

c.514T>C

1 paper

NM_022489.4

p.C172G

c.514T>G

1 paper

NM_022489.4

p.V171E

c.512T>A

1 paper

NM_022489.4

p.V171A

c.512T>C

1 paper

NM_022489.4

p.V171G

c.512T>G