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

14 papers

NM_014844.5

p.L1139delFs

c.3416delT

Surrounding Variants

3 papers

NM_014844.5

p.L1139fs

c.3415_3416fs

10 papers

NM_014844.5

p.L1139fs

c.3415_3416fs

4 papers

NM_014844.5

p.W1140G

c.3418T>G

1 paper

NM_014844.5

p.L1141L

c.3421C>T

1 paper

NM_014844.5

p.A1153A

c.3459C>T

1 paper

NM_014844.5

p.S1155R

c.3463A>C

1 paper

NM_014844.5

p.S1155R

c.3465C>A

1 paper

NM_014844.5

p.S1155R

c.3465C>G

1 paper

NM_014844.5

p.A1156T

c.3466G>A

1 paper

NM_014844.5

p.R1159W

c.3475C>T

1 paper

NM_014844.5

p.R1172C

c.3514C>T

1 paper

NM_014844.5

p.T1194M

c.3581C>T