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.V48A

c.143T>C

Surrounding Variants

1 paper

NM_022489.4

p.V48D

c.143T>A

1 paper

NM_022489.4

p.V48G

c.143T>G

1 paper

NM_022489.4

p.V48I

c.142G>A

1 paper

NM_022489.4

p.V48L

c.142G>C

1 paper

NM_022489.4

p.V48F

c.142G>T

1 paper

NM_022489.4

p.N49H

c.145A>C

1 paper

NM_022489.4

p.N49D

c.145A>G

1 paper

NM_022489.4

p.N49Y

c.145A>T

1 paper

NM_022489.4

p.N49T

c.146A>C

1 paper

NM_022489.4

p.N49S

c.146A>G

1 paper

NM_022489.4

p.N49I

c.146A>T

1 paper

NM_022489.4

p.V47E

c.140T>A