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.Y888N

c.2662T>A

Surrounding Variants

1 paper

NM_014844.5

p.Y888*

c.2664C>A

1 paper

NM_014844.5

p.Y888*

c.2664C>G

7 papers

NM_014844.5

p.T903M

c.2708C>T

1 paper

NM_014844.5

p.G918Splc

c.2752+6C>T

1 paper

NM_014844.5

p.G860E

c.2579G>A

1 paper

NM_014844.5

p.S859*

c.2576C>A

1 paper

NM_014844.5

p.S859*

c.2576C>G

1 paper

NM_014844.5

p.A840A

c.2520C>T

1 paper

NM_014844.5

p.C825F

c.2474G>T

1 paper

NM_014844.5

p.K821T

c.2462A>C

2 papers

NM_014844.5

p.V817M

c.2449G>A

1 paper

NM_014844.5

p.F799L

c.2397T>A