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

7 papers

NM_022489.4

p.G73V

c.218G>T

Surrounding Variants

7 papers

NM_022489.4

p.G73D

c.218G>A

1 paper

NM_022489.4

p.G73A

c.218G>C

11 papers

NM_022489.4

p.G73S

c.217G>A

1 paper

NM_022489.4

p.G73R

c.217G>C

1 paper

NM_022489.4

p.G73C

c.217G>T

1 paper

NM_022489.4

p.S72R

c.216C>A

1 paper

NM_022489.4

p.L74M

c.220C>A

1 paper

NM_022489.4

p.S72R

c.216C>G

1 paper

NM_022489.4

p.L74V

c.220C>G

1 paper

NM_022489.4

p.Q71_L78Fs

c.213_233delinsGAGGAGCAFs

1 paper

NM_022489.4

p.S72N

c.215G>A

1 paper

NM_022489.4

p.S72T

c.215G>C