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.M507T

c.1520T>C

Surrounding Variants

1 paper

NM_014844.5

p.S520N

c.1559G>A

2 papers

NM_014844.5

p.P493S

c.1477C>T

2 papers

NM_014844.5

p.S523delFs

c.1568delC

1 paper

NM_014844.5

p.S486L

c.1457C>T

1 paper

NM_014844.5

p.S486A

c.1456T>G

1 paper

NM_014844.5

p.N548S

c.1643A>G

2 papers

NM_014844.5

p.N548K

c.1644T>A

1 paper

NM_014844.5

p.N548N

c.1644T>C

2 papers

NM_014844.5

p.N548K

c.1644T>G

1 paper

NM_014844.5

p.S559Y

c.1676C>A

1 paper

NM_014844.5

p.D565G

c.1694A>G

5 papers

NM_014844.5

p.H577Y

c.1729C>T