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

2 papers

NM_022489.4

p.V194M

c.580G>A

Surrounding Variants

1 paper

NM_022489.4

p.Y193Y

c.579C>T

9 papers

NM_022489.4

p.Y193H

c.577T>C

1 paper

NM_022489.4

p.T196I

c.587C>T

1 paper

NM_022489.4

p.L198H

c.593T>A

10 papers

NM_022489.4

p.L198R

c.593T>G

1 paper

NM_022489.4

p.S199R

c.595A>C

1 paper

NM_022489.4

p.S199R

c.597C>A

1 paper

NM_022489.4

p.S199R

c.597C>G

1 paper

NM_022489.4

p.V200M

c.598G>A

2 papers

NM_022489.4

p.V200G

c.599T>G

1 paper

NM_022489.4

p.G187S

c.559G>A

4 papers

NM_022489.4

p.N202D

c.604A>G