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.A131V

c.392C>T

Surrounding Variants

1 paper

NM_022489.4

p.A131D

c.392C>A

1 paper

NM_022489.4

p.A131G

c.392C>G

1 paper

NM_022489.4

p.A131T

c.391G>A

1 paper

NM_022489.4

p.A131P

c.391G>C

1 paper

NM_022489.4

p.A131S

c.391G>T

1 paper

NM_022489.4

p.Q130H

c.390G>C

1 paper

NM_022489.4

p.Q130H

c.390G>T

1 paper

NM_022489.4

p.Q130P

c.389A>C

1 paper

NM_022489.4

p.Q130R

c.389A>G

1 paper

NM_022489.4

p.Q130L

c.389A>T

1 paper

NM_022489.4

p.Q130K

c.388C>A

1 paper

NM_022489.4

p.Q130E

c.388C>G