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.S72N

c.215G>A

Surrounding Variants

1 paper

NM_022489.4

p.S72T

c.215G>C

1 paper

NM_022489.4

p.S72I

c.215G>T

1 paper

NM_022489.4

p.Q71_L78delins

c.213_233delinsGAG

1 paper

NM_022489.4

p.S72R

c.214A>C

1 paper

NM_022489.4

p.S72G

c.214A>G

1 paper

NM_022489.4

p.S72C

c.214A>T

1 paper

NM_022489.4

p.S72fs

c.214_215fs

1 paper

NM_022489.4

p.S72_L74delFs

c.216_222del7

1 paper

NM_022489.4

p.S72R

c.216C>A

1 paper

NM_022489.4

p.S72R

c.216C>G

1 paper

NM_022489.4

p.Q71_L78Fs

c.213_233delinsGAGGAGCAFs

11 papers

NM_022489.4

p.G73S

c.217G>A