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.L99H

c.296T>A

Surrounding Variants

1 paper

NM_022489.4

p.L99P

c.296T>C

1 paper

NM_022489.4

p.L99R

c.296T>G

1 paper

NM_022489.4

p.L99I

c.295C>A

1 paper

NM_022489.4

p.L99V

c.295C>G

1 paper

NM_022489.4

p.L99F

c.295C>T

1 paper

NM_022489.4

p.T100P

c.298A>C

1 paper

NM_022489.4

p.T100A

c.298A>G

1 paper

NM_022489.4

p.T100S

c.298A>T

1 paper

NM_022489.4

p.Q98H

c.294G>C

1 paper

NM_022489.4

p.Q98H

c.294G>T

1 paper

NM_022489.4

p.Q98P

c.293A>C

1 paper

NM_022489.4

p.Q98R

c.293A>G