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.L37Q

c.110T>A

Surrounding Variants

1 paper

NM_022489.4

p.L37P

c.110T>C

1 paper

NM_022489.4

p.L37R

c.110T>G

1 paper

NM_022489.4

p.L37M

c.109C>A

1 paper

NM_022489.4

p.L37V

c.109C>G

1 paper

NM_022489.4

p.E36D

c.108G>C

1 paper

NM_022489.4

p.E36D

c.108G>T

1 paper

NM_022489.4

p.C38S

c.112T>A

1 paper

NM_022489.4

p.C38R

c.112T>C

1 paper

NM_022489.4

p.C38G

c.112T>G

1 paper

NM_022489.4

p.E36A

c.107A>C

1 paper

NM_022489.4

p.E36G

c.107A>G

1 paper

NM_022489.4

p.E36V

c.107A>T