Varaico: Literature-Extracted Genetic Variants

TECPR1

79 papers

RefSeq Summary

This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogen...

Pfam Domains

Pex24paa 50–165UCSCIntegral peroxisomal membrane peroxin

Hyd_WAaa 210–239UCSCPropeller

Hyd_WAaa 255–284UCSCPropeller

Hyd_WAaa 302–331UCSCPropeller

Hyd_WAaa 345–375UCSCPropeller

Pex24paa 803–916UCSCIntegral peroxisomal membrane peroxin

Gene Aliases

HGNC Name

tectonin beta-propeller repeat containing 1

HGNC Alias Symbols

DKFZP434B0335; FLJ23419; FLJ90593; KIAA1358

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015395.3

p.Y72*

c.216T>G

Surrounding Variants

1 paper

NM_015395.3

p.Q43R

c.128A>G

1 paper

NM_015395.3

p.V38A

c.113T>C

1 paper

NM_015395.3

p.R37H

c.110G>A

1 paper

NM_015395.3

p.E26A

c.77A>C

1 paper

NM_015395.3

p.Q23delFs

c.68_69delCT

1 paper

NM_015395.3

p.T20I

c.59C>T

1 paper

NM_015395.3

p.L6V

c.16C>G

1 paper

NM_015395.3

p.M1I

c.3G>T

1 paper

NM_015395.3

p.M1I

c.3G>C

1 paper

NM_015395.3

p.M1I

c.3G>A

1 paper

NM_015395.3

p.C84W

c.252T>G

1 paper

NM_015395.3

p.S113L

c.338C>T