Varaico: Literature-Extracted Genetic Variants

Gene:TECPR2

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
1–12 of 197 variants
17 papers
NM_014844.5
p.L440delFs
c.1319delT
14 papers
NM_014844.5
p.L1139delFs
c.3416delT
11 papers
NM_014844.5
p.L440fs
c.1318_1319fs
10 papers
NM_014844.5
p.L1139fs
c.3415_3416fs
7 papers
NM_014844.5
p.T189I
c.566C>T
7 papers
NM_014844.5
p.L440fs
c.1318_1319fs
7 papers
NM_014844.5
p.T903M
c.2708C>T
6 papers
NM_014844.5
p.L684V
c.2050C>G
5 papers
NM_014844.5
p.H577Y
c.1729C>T
5 papers
NM_014844.5
p.D1000Y
c.2998G>T
5 papers
NM_014844.5
p.R1336W
c.4006C>T
5 papers
NM_014844.5
p.A1397T
c.4189G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."