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

2 papers

NM_022489.4

p.L18V

c.52C>G

Surrounding Variants

1 paper

NM_022489.4

p.L18M

c.52C>A

1 paper

NM_022489.4

p.K17N

c.51G>C

1 paper

NM_022489.4

p.K17N

c.51G>T

1 paper

NM_022489.4

p.L18Q

c.53T>A

1 paper

NM_022489.4

p.L18P

c.53T>C

1 paper

NM_022489.4

p.L18R

c.53T>G

1 paper

NM_022489.4

p.K17T

c.50A>C

1 paper

NM_022489.4

p.K17R

c.50A>G

1 paper

NM_022489.4

p.K17M

c.50A>T

1 paper

NM_022489.4

p.K17Q

c.49A>C

1 paper

NM_022489.4

p.K17E

c.49A>G

1 paper

NM_022489.4

p.G19R

c.55G>A