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.S103G

c.307A>G

Surrounding Variants

1 paper

NM_022489.4

p.S103R

c.307A>C

1 paper

NM_022489.4

p.S103C

c.307A>T

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

1 paper

NM_022489.4

p.S103R

c.309C>A

1 paper

NM_022489.4

p.S103R

c.309C>G

6 papers

NM_022489.4

p.V102D

c.305T>A

1 paper

NM_022489.4

p.V102A

c.305T>C

1 paper

NM_022489.4

p.V102G

c.305T>G

1 paper

NM_022489.4

p.V102I

c.304G>A

1 paper

NM_022489.4

p.V102L

c.304G>C