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.G123D

c.368G>A

Surrounding Variants

1 paper

NM_022489.4

p.G123A

c.368G>C

1 paper

NM_022489.4

p.G123V

c.368G>T

1 paper

NM_022489.4

p.G123S

c.367G>A

1 paper

NM_022489.4

p.G123R

c.367G>C

1 paper

NM_022489.4

p.G123C

c.367G>T

1 paper

NM_022489.4

p.Q122H

c.366G>C

1 paper

NM_022489.4

p.Q122H

c.366G>T

1 paper

NM_022489.4

p.Y124N

c.370T>A

1 paper

NM_022489.4

p.Y124H

c.370T>C

1 paper

NM_022489.4

p.Y124D

c.370T>G

1 paper

NM_022489.4

p.S129_Q130ins5

c.387_388ins15

1 paper

NM_022489.4

p.Q122P

c.365A>C