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.Q8L

c.23A>T

Surrounding Variants

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.Q8K

c.22C>A

1 paper

NM_022489.4

p.Q8E

c.22C>G

1 paper

NM_022489.4

p.Q8H

c.24G>C

1 paper

NM_022489.4

p.Q8H

c.24G>T

1 paper

NM_022489.4

p.R9S

c.25C>A

1 paper

NM_022489.4

p.R9G

c.25C>G

1 paper

NM_022489.4

p.R9C

c.25C>T

1 paper

NM_022489.4

p.A7E

c.20C>A

1 paper

NM_022489.4

p.A7G

c.20C>G

1 paper

NM_022489.4

p.A7V

c.20C>T