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.F68I

c.202T>A

Surrounding Variants

2 papers

NM_022489.4

p.F68L

c.202T>C

1 paper

NM_022489.4

p.F68V

c.202T>G

1 paper

NM_022489.4

p.Q67H

c.201G>C

1 paper

NM_022489.4

p.Q67H

c.201G>T

1 paper

NM_022489.4

p.F68Y

c.203T>A

7 papers

NM_022489.4

p.F68S

c.203T>C

1 paper

NM_022489.4

p.F68C

c.203T>G

2 papers

NM_022489.4

p.L69_S72del0

c.205_216del12

1 paper

NM_022489.4

p.Q67P

c.200A>C

1 paper

NM_022489.4

p.Q67R

c.200A>G

1 paper

NM_022489.4

p.Q67L

c.200A>T

2 papers

NM_022489.4

p.F68L

c.204C>A