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

6 papers

NM_022489.4

p.S129P

c.385T>C

Surrounding Variants

1 paper

NM_022489.4

p.S129T

c.385T>A

1 paper

NM_022489.4

p.S129A

c.385T>G

1 paper

NM_022489.4

p.S129Y

c.386C>A

1 paper

NM_022489.4

p.S129C

c.386C>G

1 paper

NM_022489.4

p.S129F

c.386C>T

1 paper

NM_022489.4

p.Q130del1

c.388_389delCAG

1 paper

NM_022489.4

p.L128H

c.383T>A

14 papers

NM_022489.4

p.L128P

c.383T>C

1 paper

NM_022489.4

p.L128R

c.383T>G

1 paper

NM_022489.4

p.L128I

c.382C>A

1 paper

NM_022489.4

p.Q130K

c.388C>A

1 paper

NM_022489.4

p.L128V

c.382C>G