Varaico: Literature-Extracted Genetic Variants

TCTN1

93 papers

RefSeq Summary

This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This...

Pfam Domains

DUF1619_Naa 56–175UCSCN-terminal domain of DUF1619

TCTN_DUF1619aa 203–369UCSCTectonic domain of DUF1619

TCTN_DUF1619aa 376–560UCSCTectonic domain of DUF1619

Gene Aliases

HGNC Name

tectonic family member 1

HGNC Alias Symbols

FLJ21127; TECT1; JBTS13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001082538.3

p.G315E

c.944G>A

Surrounding Variants

1 paper

NM_001082538.3

p.P309P

c.927G>A

3 papers

NM_001082538.3

p.E326_V327Splc

c.978+1G>T

3 papers

NM_001082538.3

p.R300*

c.898C>T

1 paper

NM_001082538.3

p.L294L

c.880C>T

1 paper

NM_001082538.3

p.I291T

c.872T>C

1 paper

NM_001082538.3

p.V339L

c.1015G>C

1 paper

NM_001082538.3

p.K341E

c.1021A>G

1 paper

NM_001082538.3

p.V356insFs

c.1068dupC

1 paper

NM_001082538.3

p.I364insFs

c.1092dupT

1 paper

NM_001082538.3

p.T371P

c.1111A>C

1 paper

NM_001082538.3

p.Q372insFs

c.1116dupG

1 paper

NM_001082538.3

p.V374F

c.1120G>T