Varaico: Literature-Extracted Genetic Variants

TCTN2

106 papers

RefSeq Summary

This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutati...

Pfam Domains

DUF1619_Naa 146–261UCSCN-terminal domain of DUF1619

TCTN_DUF1619aa 275–368UCSCTectonic domain of DUF1619

TCTN_DUF1619aa 388–577UCSCTectonic domain of DUF1619

Gene Aliases

HGNC Name

tectonic family member 2

HGNC Previous Symbol

C12orf38

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024809.5

p.P376delFs

c.1128delT

Surrounding Variants

1 paper

NM_024809.5

p.R377fs

c.1129_1130fs

4 papers

NM_024809.5

p.G373R

c.1117G>A

4 papers

NM_024809.5

p.G373R

c.1117G>C

2 papers

NM_024809.5

p.E383*

c.1147G>T

4 papers

NM_024809.5

p.G412Splc

c.1235-1G>A

1 paper

NM_024809.5

p.G428fs

c.1282_1283fs

8 papers

NM_024809.5

p.N429insFs

c.1286dupA

7 papers

NM_024809.5

p.N429fs

c.1285_1286fs

1 paper

NM_024809.5

p.E431*

c.1291G>T

1 paper

NM_024809.5

p.G435E

c.1304G>A

1 paper

NM_024809.5

p.G438Splc

c.1312+49C>T

1 paper

NM_024809.5

p.Q440L

c.1319A>T