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.L14L

c.42G>A

Surrounding Variants

1 paper

NM_022489.4

p.K15Q

c.43A>C

1 paper

NM_022489.4

p.K15E

c.43A>G

1 paper

NM_022489.4

p.L14Q

c.41T>A

1 paper

NM_022489.4

p.L14P

c.41T>C

1 paper

NM_022489.4

p.L14R

c.41T>G

1 paper

NM_022489.4

p.K15T

c.44A>C

2 papers

NM_022489.4

p.K15R

c.44A>G

1 paper

NM_022489.4

p.K15M

c.44A>T

1 paper

NM_022489.4

p.L14M

c.40C>A

2 papers

NM_022489.4

p.L14V

c.40C>G

1 paper

NM_022489.4

p.K15N

c.45G>C

1 paper

NM_022489.4

p.K15N

c.45G>T