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.V125A

c.374T>C

Surrounding Variants

2 papers

NM_022489.4

p.V125E

c.374T>A

1 paper

NM_022489.4

p.V125G

c.374T>G

2 papers

NM_022489.4

p.V125M

c.373G>A

1 paper

NM_022489.4

p.V125L

c.373G>C

1 paper

NM_022489.4

p.V125L

c.373G>T

1 paper

NM_022489.4

p.R126S

c.376C>A

1 paper

NM_022489.4

p.R126G

c.376C>G

1 paper

NM_022489.4

p.R126C

c.376C>T

1 paper

NM_022489.4

p.S129_Q130ins5

c.387_388ins15

1 paper

NM_022489.4

p.Y124S

c.371A>C

1 paper

NM_022489.4

p.Y124C

c.371A>G

1 paper

NM_022489.4

p.Y124F

c.371A>T