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.L78Q

c.233T>A

Surrounding Variants

4 papers

NM_022489.4

p.L78P

c.233T>C

1 paper

NM_022489.4

p.L78R

c.233T>G

1 paper

NM_022489.4

p.L78M

c.232C>A

1 paper

NM_022489.4

p.L78V

c.232C>G

1 paper

NM_022489.4

p.E79K

c.235G>A

1 paper

NM_022489.4

p.E79Q

c.235G>C

1 paper

NM_022489.4

p.E79A

c.236A>C

1 paper

NM_022489.4

p.E79G

c.236A>G

1 paper

NM_022489.4

p.E79V

c.236A>T

1 paper

NM_022489.4

p.L77Q

c.230T>A

16 papers

NM_022489.4

p.L77P

c.230T>C

10 papers

NM_022489.4

p.L77R

c.230T>G