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.W1024*

c.3072G>A

Surrounding Variants

4 papers

NM_014844.5

p.W1024*

c.3071G>A

1 paper

NM_014844.5

p.D1021N

c.3061G>A

1 paper

NM_014844.5

p.G1018R

c.3052G>A

1 paper

NM_014844.5

p.G1018R

c.3052G>C

1 paper

NM_014844.5

p.P1016S

c.3046C>T

5 papers

NM_014844.5

p.D1000Y

c.2998G>T

2 papers

NM_014844.5

p.T989M

c.2966C>T

1 paper

NM_014844.5

p.P985P

c.2955C>T

1 paper

NM_014844.5

p.P985S

c.2953C>T

1 paper

NM_014844.5

p.Q981K

c.2941C>A

1 paper

NM_014844.5

p.V962M

c.2884G>A

1 paper

NM_014844.5

p.V947L

c.2839G>C