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.C101Y

c.302G>A

Surrounding Variants

1 paper

NM_022489.4

p.C101S

c.302G>C

1 paper

NM_022489.4

p.C101F

c.302G>T

1 paper

NM_022489.4

p.C101W

c.303C>G

1 paper

NM_022489.4

p.C101S

c.301T>A

5 papers

NM_022489.4

p.C101R

c.301T>C

1 paper

NM_022489.4

p.C101G

c.301T>G

1 paper

NM_022489.4

p.V102I

c.304G>A

1 paper

NM_022489.4

p.V102L

c.304G>C

1 paper

NM_022489.4

p.V102fs

c.304_305fs

1 paper

NM_022489.4

p.V102F

c.304G>T

1 paper

NM_022489.4

p.V102_V105delFs

c.305_314del10

1 paper

NM_022489.4

p.T100N

c.299C>A