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.E1299A

c.3896A>C

Surrounding Variants

2 papers

NM_014844.5

p.N1277fs

c.3829_3830fs

3 papers

NM_014844.5

p.N1277delFs

c.3830delA

1 paper

NM_014844.5

p.G1266V

c.3797G>T

3 papers

NM_014844.5

p.A1318_L1319del2

c.3952_3956del6

1 paper

NM_014844.5

p.V1324M

c.3970G>A

1 paper

NM_014844.5

p.A1326V

c.3977C>T

1 paper

NM_014844.5

p.G1331R

c.3991G>A

1 paper

NM_014844.5

p.L1333F

c.3997C>T

5 papers

NM_014844.5

p.R1336W

c.4006C>T

1 paper

NM_014844.5

p.V1339I

c.4015G>A

2 papers

NM_014844.5

p.A1345T

c.4033G>A

4 papers

NM_014844.5

p.A1345P

c.4033G>C