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.L96P

c.287T>C

Surrounding Variants

1 paper

NM_022489.4

p.L96Q

c.287T>A

1 paper

NM_022489.4

p.L96R

c.287T>G

1 paper

NM_022489.4

p.L96M

c.286C>A

1 paper

NM_022489.4

p.L96V

c.286C>G

1 paper

NM_022489.4

p.L97M

c.289C>A

1 paper

NM_022489.4

p.L97V

c.289C>G

1 paper

NM_022489.4

p.A95D

c.284C>A

1 paper

NM_022489.4

p.A95G

c.284C>G

1 paper

NM_022489.4

p.A95V

c.284C>T

1 paper

NM_022489.4

p.L97Q

c.290T>A

1 paper

NM_022489.4

p.L97P

c.290T>C

1 paper

NM_022489.4

p.L97R

c.290T>G