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.R112P

c.335G>C

Surrounding Variants

1 paper

NM_022489.4

p.R112Q

c.335G>A

1 paper

NM_022489.4

p.R112L

c.335G>T

1 paper

NM_022489.4

p.R112G

c.334C>G

1 paper

NM_022489.4

p.R112W

c.334C>T

1 paper

NM_022489.4

p.Q113K

c.337C>A

1 paper

NM_022489.4

p.Q113E

c.337C>G

1 paper

NM_022489.4

p.Q113P

c.338A>C

1 paper

NM_022489.4

p.Q113R

c.338A>G

1 paper

NM_022489.4

p.Q113L

c.338A>T

1 paper

NM_022489.4

p.S111W

c.332C>G

1 paper

NM_022489.4

p.S111L

c.332C>T

1 paper

NM_022489.4

p.Q113H

c.339G>C