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.R40G

c.118C>G

Surrounding Variants

1 paper

NM_022489.4

p.R40W

c.118C>T

1 paper

NM_022489.4

p.I39M

c.117C>G

1 paper

NM_022489.4

p.R40Q

c.119G>A

1 paper

NM_022489.4

p.R40P

c.119G>C

1 paper

NM_022489.4

p.R40L

c.119G>T

1 paper

NM_022489.4

p.I39N

c.116T>A

1 paper

NM_022489.4

p.I39T

c.116T>C

1 paper

NM_022489.4

p.I39S

c.116T>G

1 paper

NM_022489.4

p.I39L

c.115A>C

1 paper

NM_022489.4

p.I39V

c.115A>G

1 paper

NM_022489.4

p.I39F

c.115A>T

1 paper

NM_022489.4

p.L41M

c.121C>A