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.C104G

c.310T>G

Surrounding Variants

2 papers

NM_022489.4

p.C104S

c.310T>A

12 papers

NM_022489.4

p.C104R

c.310T>C

1 paper

NM_022489.4

p.S103R

c.309C>A

1 paper

NM_022489.4

p.S103R

c.309C>G

7 papers

NM_022489.4

p.C104Y

c.311G>A

2 papers

NM_022489.4

p.C104S

c.311G>C

13 papers

NM_022489.4

p.C104F

c.311G>T

1 paper

NM_022489.4

p.V105_V108del0

c.315_323del9

16 papers

NM_022489.4

p.C104W

c.312C>G

1 paper

NM_022489.4

p.S103N

c.308G>A

1 paper

NM_022489.4

p.S103T

c.308G>C

1 paper

NM_022489.4

p.S103I

c.308G>T