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.L440R

c.1319T>G

Surrounding Variants

7 papers

NM_014844.5

p.L440fs

c.1318_1319fs

17 papers

NM_014844.5

p.L440delFs

c.1319delT

11 papers

NM_014844.5

p.L440fs

c.1318_1319fs

3 papers

NM_014844.5

p.L440delFs

c.1318_1319delCT

1 paper

NM_014844.5

p.P439S

c.1315C>T

1 paper

NM_014844.5

p.E432V

c.1295A>T

1 paper

NM_014844.5

p.E450K

c.1348G>A

2 papers

NM_014844.5

p.D453N

c.1357G>A

1 paper

NM_014844.5

p.G421fs

c.1261_1262fs

1 paper

NM_014844.5

p.P460S

c.1378C>T

1 paper

NM_014844.5

p.D417fs

c.1249_1250fs

1 paper

NM_014844.5

p.K471_T472ins0

c.1412_1414dupAGA