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.L119R

c.356T>G

Surrounding Variants

1 paper

NM_022489.4

p.L119H

c.356T>A

1 paper

NM_022489.4

p.L119P

c.356T>C

1 paper

NM_022489.4

p.L119I

c.355C>A

1 paper

NM_022489.4

p.L119V

c.355C>G

1 paper

NM_022489.4

p.L119F

c.355C>T

1 paper

NM_022489.4

p.S120R

c.358A>C

1 paper

NM_022489.4

p.S120G

c.358A>G

1 paper

NM_022489.4

p.S120C

c.358A>T

1 paper

NM_022489.4

p.I118M

c.354C>G

1 paper

NM_022489.4

p.S120N

c.359G>A

1 paper

NM_022489.4

p.S120T

c.359G>C

1 paper

NM_022489.4

p.S120I

c.359G>T