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.N121I

c.362A>T

Surrounding Variants

1 paper

NM_022489.4

p.N121T

c.362A>C

1 paper

NM_022489.4

p.N121S

c.362A>G

1 paper

NM_022489.4

p.N121H

c.361A>C

1 paper

NM_022489.4

p.N121D

c.361A>G

1 paper

NM_022489.4

p.N121Y

c.361A>T

1 paper

NM_022489.4

p.N121K

c.363C>A

1 paper

NM_022489.4

p.N121K

c.363C>G

1 paper

NM_022489.4

p.S120R

c.360C>A

1 paper

NM_022489.4

p.Q122K

c.364C>A

1 paper

NM_022489.4

p.S120R

c.360C>G

1 paper

NM_022489.4

p.Q122E

c.364C>G

1 paper

NM_022489.4

p.Q122P

c.365A>C