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.V89L

c.265G>C

Surrounding Variants

1 paper

NM_022489.4

p.V89I

c.265G>A

1 paper

NM_022489.4

p.V89F

c.265G>T

1 paper

NM_022489.4

p.V89D

c.266T>A

1 paper

NM_022489.4

p.V89A

c.266T>C

1 paper

NM_022489.4

p.V89G

c.266T>G

1 paper

NM_022489.4

p.G88D

c.263G>A

1 paper

NM_022489.4

p.G88A

c.263G>C

1 paper

NM_022489.4

p.G88V

c.263G>T

2 papers

NM_022489.4

p.G88S

c.262G>A

1 paper

NM_022489.4

p.A90T

c.268G>A

1 paper

NM_022489.4

p.G88R

c.262G>C

1 paper

NM_022489.4

p.A90P

c.268G>C