Varaico: Literature-Extracted Genetic Variants

Gene:TENM1
Variant:p.G2079C

TENM1

313 papers

RefSeq Summary

The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced t...

Pfam Domains

Ten_Naa 162–317UCSCTeneurin Intracellular Region
GBD_Tenm3aa 396–525UCSCTeneurin-3-like, galactose-binding domain-like
EGF_TENaa 534–775UCSCTeneurin EGF domain
TTR_TEN1-4aa 881–966UCSCTeneurin TTR-like domain
FN-plug_TEN1-4aa 1039–1124UCSCTeneurin 1-4, FN-plug domain
TEN_NHLaa 1165–1522UCSCTeneurin NHL domain

Gene Aliases

HGNC Name

teneurin transmembrane protein 1

HGNC Previous Symbols

ODZ3; TNM; ODZ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001163278.2
p.G2079C
c.6235G>T
Surrounding Variants
1 paper
NM_001163278.2
p.G2040R
c.6118G>C
1 paper
NM_001163278.2
p.G2026R
c.6076G>C
1 paper
NM_001163278.2
p.G2026R
c.6076G>A
1 paper
NM_001163278.2
p.I2142I
c.6426A>T
1 paper
NM_001163278.2
p.R2178H
c.6533G>A
1 paper
NM_001163278.2
p.Y2181Y
c.6543C>T
1 paper
NM_001163278.2
p.S2195N
c.6584G>A
1 paper
NM_001163278.2
p.R2197H
c.6590G>A
1 paper
NM_001163278.2
p.R2206*
c.6616C>T
1 paper
NM_001163278.2
p.G2229E
c.6686G>A
1 paper
NM_001163278.2
p.Q2242H
c.6726G>T
1 paper
NM_001163278.2
p.Q2242H
c.6726G>C
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