Varaico: Literature-Extracted Genetic Variants

TECPR2

160 papers

RefSeq Summary

The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene...

Pfam Domains

Beta-prop_HPS5aa 19–345UCSCHPS5 beta-propeller

Hyd_WAaa 946–975UCSCPropeller

Hyd_WAaa 995–1026UCSCPropeller

Tectoninaa 1163–1372UCSCTectonin domain

Gene Aliases

HGNC Name

tectonin beta-propeller repeat containing 2

HGNC Previous Symbol

KIAA0329

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_014844.5

p.G239R

c.715G>A

Surrounding Variants

3 papers

NM_014844.5

p.G239R

c.715G>C

2 papers

NM_014844.5

p.T232fs

c.694_695fs

3 papers

NM_014844.5

p.T232insFs

c.694dupA

2 papers

NM_014844.5

p.G249R

c.745G>A

2 papers

NM_014844.5

p.G249R

c.745G>C

1 paper

NM_014844.5

p.K227R

c.680A>G

4 papers

NM_014844.5

p.K258delFs

c.774delA

1 paper

NM_014844.5

p.D259fs

c.775_776fs

2 papers

NM_014844.5

p.D259fs

c.775_776fs

1 paper

NM_014844.5

p.V265I

c.793G>A

1 paper

NM_014844.5

p.H271R

c.812A>G

2 papers

NM_014844.5

p.R273H

c.818G>A