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.L69Q

c.206T>A

Surrounding Variants

11 papers

NM_022489.4

p.L69P

c.206T>C

1 paper

NM_022489.4

p.L69R

c.206T>G

1 paper

NM_022489.4

p.L69M

c.205C>A

1 paper

NM_022489.4

p.L69V

c.205C>G

2 papers

NM_022489.4

p.F68L

c.204C>A

2 papers

NM_022489.4

p.F68L

c.204C>G

1 paper

NM_022489.4

p.E70K

c.208G>A

1 paper

NM_022489.4

p.E70Q

c.208G>C

1 paper

NM_022489.4

p.E70A

c.209A>C

1 paper

NM_022489.4

p.E70G

c.209A>G

1 paper

NM_022489.4

p.E70V

c.209A>T

1 paper

NM_022489.4

p.F68Y

c.203T>A