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.A107S

c.319G>T

Surrounding Variants

1 paper

NM_022489.4

p.A107T

c.319G>A

1 paper

NM_022489.4

p.A107P

c.319G>C

1 paper

NM_022489.4

p.A107D

c.320C>A

1 paper

NM_022489.4

p.A107G

c.320C>G

1 paper

NM_022489.4

p.A107V

c.320C>T

1 paper

NM_022489.4

p.R106H

c.317G>A

15 papers

NM_022489.4

p.R106P

c.317G>C

1 paper

NM_022489.4

p.R106L

c.317G>T

1 paper

NM_022489.4

p.R106S

c.316C>A

1 paper

NM_022489.4

p.R106G

c.316C>G

1 paper

NM_022489.4

p.R106C

c.316C>T

1 paper

NM_022489.4

p.V108I

c.322G>A