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

1–12 of 107 variants

8 papers

NM_001082538.3

p.T114Splc

c.342-2A>G

4 papers

NM_001082538.3

p.V11_G15del0

c.32_43del12

4 papers

NM_001082538.3

p.G115fs

c.343_344fs

3 papers

NM_001082538.3

p.M1I

c.3G>C

3 papers

NM_001082538.3

p.V74Splc

c.221-2A>G

3 papers

NM_001082538.3

p.R300*

c.898C>T

3 papers

NM_001082538.3

p.E326_V327Splc

c.978+1G>T

3 papers

NM_001082538.3

p.L462insFs

c.1385dupT

3 papers

NM_001082538.3

p.W463fs

c.1387_1388fs

2 papers

NM_001082538.3

p.L6delFs

c.16delC

2 papers

NM_001082538.3

p.V11A

c.32T>C

2 papers

NM_001082538.3

p.T32_A43del12

c.94_128del36