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.E16D

c.48G>C

Surrounding Variants

1 paper

NM_022489.4

p.E16D

c.48G>T

4 papers

NM_022489.4

p.E16A

c.47A>C

1 paper

NM_022489.4

p.K17Q

c.49A>C

1 paper

NM_022489.4

p.E16G

c.47A>G

1 paper

NM_022489.4

p.K17E

c.49A>G

1 paper

NM_022489.4

p.E16V

c.47A>T

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.E16K

c.46G>A

1 paper

NM_022489.4

p.E16Q

c.46G>C

1 paper

NM_022489.4

p.K15N

c.45G>C