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.L84Q

c.251T>A

Surrounding Variants

1 paper

NM_022489.4

p.L84P

c.251T>C

1 paper

NM_022489.4

p.L84R

c.251T>G

1 paper

NM_022489.4

p.L84M

c.250C>A

1 paper

NM_022489.4

p.L84V

c.250C>G

1 paper

NM_022489.4

p.S85T

c.253T>A

1 paper

NM_022489.4

p.S85P

c.253T>C

1 paper

NM_022489.4

p.S85A

c.253T>G

4 papers

NM_022489.4

p.S85W

c.254C>G

2 papers

NM_022489.4

p.S85L

c.254C>T

1 paper

NM_022489.4

p.R83Q

c.248G>A

1 paper

NM_022489.4

p.R83P

c.248G>C

1 paper

NM_022489.4

p.R83L

c.248G>T