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

47 papers

NM_022489.4

p.R218Q

c.653G>A

Surrounding Variants

13 papers

NM_022489.4

p.R218W

c.652C>T

1 paper

NM_022489.4

p.N219I

c.656A>T

25 papers

NM_022489.4

p.E220K

c.658G>A

2 papers

NM_022489.4

p.T215S

c.644C>G

1 paper

NM_022489.4

p.Q216_I222del7

c.646_665del21

1 paper

NM_022489.4

p.T215P

c.643A>C

2 papers

NM_022489.4

p.T215S

c.643A>T

14 papers

NM_022489.4

p.R214H

c.641G>A

15 papers

NM_022489.4

p.R214C

c.640C>T

1 paper

NM_022489.4

p.A213V

c.638C>T

1 paper

NM_022489.4

p.R212H

c.635G>A

2 papers

NM_022489.4

p.R212C

c.634C>T