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

8 papers

NM_001082538.3

p.T114Splc

c.342-2A>G

Surrounding Variants

1 paper

NM_001082538.3

p.T114Splc

c.342-2A>C

1 paper

NM_001082538.3

p.T114Splc

c.342-1G>A

4 papers

NM_001082538.3

p.G115fs

c.343_344fs

1 paper

NM_001082538.3

p.T114Splc

c.342-8A>G

1 paper

NM_001082538.3

p.S121G

c.361A>G

1 paper

NM_001082538.3

p.I150_I153del4

c.448_458del12

1 paper

NM_001082538.3

p.I150V

c.448A>G

1 paper

NM_001082538.3

p.Y158Splc

c.472+1G>A

1 paper

NM_001082538.3

p.L162del1

c.484_486delTTA

1 paper

NM_001082538.3

p.L162delFs

c.485_486delTA

1 paper

NM_001082538.3

p.S163Y

c.488C>A

1 paper

NM_001082538.3

p.V169L

c.505G>T