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

3 papers

NM_014844.5

p.E661K

c.1981G>A

Surrounding Variants

1 paper

NM_014844.5

p.L664L

c.1990C>T

1 paper

NM_014844.5

p.L644delFs

c.1930delC

4 papers

NM_014844.5

p.I683V

c.2047A>G

6 papers

NM_014844.5

p.L684V

c.2050C>G

1 paper

NM_014844.5

p.A689S

c.2065G>T

1 paper

NM_014844.5

p.W698G

c.2092T>G

1 paper

NM_014844.5

p.L597L

c.1791C>T

1 paper

NM_014844.5

p.V728delFs

c.2184delC

1 paper

NM_014844.5

p.L581L

c.1743G>T

1 paper

NM_014844.5

p.P744Q

c.2231C>A

5 papers

NM_014844.5

p.H577Y

c.1729C>T

1 paper

NM_014844.5

p.T750M

c.2249C>T