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

2 papers

NM_022489.4

p.Q127R

c.380A>G

Surrounding Variants

1 paper

NM_022489.4

p.Q127P

c.380A>C

1 paper

NM_022489.4

p.Q127L

c.380A>T

1 paper

NM_022489.4

p.Q127K

c.379C>A

1 paper

NM_022489.4

p.Q127E

c.379C>G

1 paper

NM_022489.4

p.Q127H

c.381G>C

1 paper

NM_022489.4

p.Q127H

c.381G>T

1 paper

NM_022489.4

p.L128I

c.382C>A

1 paper

NM_022489.4

p.L128V

c.382C>G

1 paper

NM_022489.4

p.L128F

c.382C>T

1 paper

NM_022489.4

p.R126H

c.377G>A

1 paper

NM_022489.4

p.R126P

c.377G>C

1 paper

NM_022489.4

p.R126L

c.377G>T