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.L74P

c.221T>C

Surrounding Variants

1 paper

NM_022489.4

p.L74Q

c.221T>A

1 paper

NM_022489.4

p.L74R

c.221T>G

1 paper

NM_022489.4

p.L74M

c.220C>A

1 paper

NM_022489.4

p.L74V

c.220C>G

1 paper

NM_022489.4

p.D75N

c.223G>A

1 paper

NM_022489.4

p.D75H

c.223G>C

1 paper

NM_022489.4

p.D75Y

c.223G>T

1 paper

NM_022489.4

p.D75A

c.224A>C

1 paper

NM_022489.4

p.D75G

c.224A>G

1 paper

NM_022489.4

p.D75V

c.224A>T

1 paper

NM_022489.4

p.D75_L77del0

c.225_230del6

7 papers

NM_022489.4

p.G73D

c.218G>A