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

1–12 of 2638 variants

47 papers

NM_022489.4

p.R218Q

c.653G>A

25 papers

NM_022489.4

p.E220K

c.658G>A

24 papers

NM_022489.4

p.S186P

c.556T>C

21 papers

NM_022489.4

p.E184K

c.550G>A

16 papers

NM_022489.4

p.L77P

c.230T>C

16 papers

NM_022489.4

p.C104W

c.312C>G

15 papers

NM_022489.4

p.A13T

c.37G>A

15 papers

NM_022489.4

p.R106P

c.317G>C

15 papers

NM_022489.4

p.R214C

c.640C>T

14 papers

NM_022489.4

p.L128P

c.383T>C

14 papers

NM_022489.4

p.R214H

c.641G>A

13 papers

NM_022489.4

p.L76P

c.227T>C