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.S46Y

c.137C>A

Surrounding Variants

1 paper

NM_022489.4

p.S46C

c.137C>G

1 paper

NM_022489.4

p.S46F

c.137C>T

1 paper

NM_022489.4

p.S46T

c.136T>A

1 paper

NM_022489.4

p.S46P

c.136T>C

1 paper

NM_022489.4

p.S46A

c.136T>G

1 paper

NM_022489.4

p.V47M

c.139G>A

1 paper

NM_022489.4

p.V47L

c.139G>C

1 paper

NM_022489.4

p.V47L

c.139G>T

1 paper

NM_022489.4

p.P45H

c.134C>A

1 paper

NM_022489.4

p.P45R

c.134C>G

3 papers

NM_022489.4

p.P45L

c.134C>T

1 paper

NM_022489.4

p.V47E

c.140T>A