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.K10N

c.30G>C

Surrounding Variants

1 paper

NM_022489.4

p.K10N

c.30G>T

1 paper

NM_022489.4

p.K10T

c.29A>C

1 paper

NM_022489.4

p.K10R

c.29A>G

1 paper

NM_022489.4

p.K10M

c.29A>T

1 paper

NM_022489.4

p.W11R

c.31T>A

1 paper

NM_022489.4

p.W11R

c.31T>C

1 paper

NM_022489.4

p.W11G

c.31T>G

1 paper

NM_022489.4

p.K10Q

c.28A>C

1 paper

NM_022489.4

p.K10E

c.28A>G

1 paper

NM_022489.4

p.W11S

c.32G>C

2 papers

NM_022489.4

p.W11L

c.32G>T

1 paper

NM_022489.4

p.W11C

c.33G>C