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.V431L

c.1291G>T

Surrounding Variants

1 paper

NM_001082538.3

p.V431L

c.1291G>C

1 paper

NM_001082538.3

p.F433S

c.1298T>C

1 paper

NM_001082538.3

p.V427I

c.1279G>A

1 paper

NM_001082538.3

p.R406delFs

c.1216_1217delAG

1 paper

NM_001082538.3

p.A390delFs

c.1170delT

1 paper

NM_001082538.3

p.A389V

c.1166C>T

1 paper

NM_001082538.3

p.V384delFs

c.1150_1151delGT

1 paper

NM_001082538.3

p.V374F

c.1120G>T

1 paper

NM_001082538.3

p.Q372insFs

c.1116dupG

1 paper

NM_001082538.3

p.T371P

c.1111A>C

1 paper

NM_001082538.3

p.I364insFs

c.1092dupT

1 paper

NM_001082538.3

p.V356insFs

c.1068dupC