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.I115S

c.344T>G

Surrounding Variants

2 papers

NM_022489.4

p.I115N

c.344T>A

1 paper

NM_022489.4

p.I115T

c.344T>C

1 paper

NM_022489.4

p.I115L

c.343A>C

1 paper

NM_022489.4

p.I115V

c.343A>G

1 paper

NM_022489.4

p.I115F

c.343A>T

1 paper

NM_022489.4

p.I115M

c.345C>G

1 paper

NM_022489.4

p.E116K

c.346G>A

1 paper

NM_022489.4

p.E116Q

c.346G>C

1 paper

NM_022489.4

p.E116A

c.347A>C

1 paper

NM_022489.4

p.E116G

c.347A>G

1 paper

NM_022489.4

p.E116V

c.347A>T

10 papers

NM_022489.4

p.G114D

c.341G>A