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

1 paper

NM_014844.5

p.S213Splc

c.638+4100A>G

Surrounding Variants

1 paper

NM_014844.5

p.T208I

c.623C>T

4 papers

NM_014844.5

p.Q191*

c.571C>T

7 papers

NM_014844.5

p.T189I

c.566C>T

1 paper

NM_014844.5

p.E171A

c.512A>C

1 paper

NM_014844.5

p.E171*

c.511G>T

1 paper

NM_014844.5

p.K227R

c.680A>G

3 papers

NM_014844.5

p.T232insFs

c.694dupA

2 papers

NM_014844.5

p.T232fs

c.694_695fs

4 papers

NM_014844.5

p.G239R

c.715G>A

3 papers

NM_014844.5

p.G239R

c.715G>C

2 papers

NM_014844.5

p.G249R

c.745G>A

2 papers

NM_014844.5

p.G249R

c.745G>C