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.S23A

c.67T>G

Surrounding Variants

2 papers

NM_022489.4

p.S23T

c.67T>A

1 paper

NM_022489.4

p.S23P

c.67T>C

1 paper

NM_022489.4

p.S23W

c.68C>G

1 paper

NM_022489.4

p.S23L

c.68C>T

1 paper

NM_022489.4

p.D22E

c.66T>A

1 paper

NM_022489.4

p.D22E

c.66T>G

1 paper

NM_022489.4

p.D22A

c.65A>C

1 paper

NM_022489.4

p.D22G

c.65A>G

1 paper

NM_022489.4

p.D22V

c.65A>T

1 paper

NM_022489.4

p.D22N

c.64G>A

1 paper

NM_022489.4

p.D24N

c.70G>A

1 paper

NM_022489.4

p.D22H

c.64G>C