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

13 papers

NM_022489.4

p.L76P

c.227T>C

Surrounding Variants

1 paper

NM_022489.4

p.L76Q

c.227T>A

1 paper

NM_022489.4

p.L76R

c.227T>G

1 paper

NM_022489.4

p.L76M

c.226C>A

1 paper

NM_022489.4

p.L76V

c.226C>G

1 paper

NM_022489.4

p.D75E

c.225C>A

1 paper

NM_022489.4

p.L77M

c.229C>A

1 paper

NM_022489.4

p.L76ins1

c.226_227insAGC

1 paper

NM_022489.4

p.D75E

c.225C>G

1 paper

NM_022489.4

p.L77V

c.229C>G

1 paper

NM_022489.4

p.L78del1

c.232_234delCTG

1 paper

NM_022489.4

p.D75A

c.224A>C

1 paper

NM_022489.4

p.D75G

c.224A>G