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.D922V

c.2765A>T

Surrounding Variants

1 paper

NM_014844.5

p.G918Splc

c.2753-1G>A

1 paper

NM_014844.5

p.A928A

c.2784C>T

4 papers

NM_014844.5

p.R943delFs

c.2829delG

1 paper

NM_014844.5

p.R943Q

c.2828G>A

1 paper

NM_014844.5

p.N944fs

c.2830_2831fs

3 papers

NM_014844.5

p.N944fs

c.2830_2831fs

1 paper

NM_014844.5

p.V947L

c.2839G>C

1 paper

NM_014844.5

p.V947L

c.2839G>T

1 paper

NM_014844.5

p.V962M

c.2884G>A

1 paper

NM_014844.5

p.Q981K

c.2941C>A

1 paper

NM_014844.5

p.P985S

c.2953C>T

1 paper

NM_014844.5

p.P985P

c.2955C>T