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.D24N

c.70G>A

Surrounding Variants

1 paper

NM_022489.4

p.D24H

c.70G>C

1 paper

NM_022489.4

p.D24Y

c.70G>T

1 paper

NM_022489.4

p.D24A

c.71A>C

1 paper

NM_022489.4

p.D24G

c.71A>G

1 paper

NM_022489.4

p.D24V

c.71A>T

1 paper

NM_022489.4

p.D24E

c.72C>A

1 paper

NM_022489.4

p.S23W

c.68C>G

1 paper

NM_022489.4

p.D24E

c.72C>G

1 paper

NM_022489.4

p.S23L

c.68C>T

1 paper

NM_022489.4

p.P25T

c.73C>A

1 paper

NM_022489.4

p.P25A

c.73C>G

1 paper

NM_022489.4

p.P25S

c.73C>T