Varaico: Literature-Extracted Genetic Variants

Gene:TENM1
Variant:p.L554F

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
2 papers
NM_001163278.2
p.L554F
c.1660C>T
Surrounding Variants
1 paper
NM_001163278.2
p.G545S
c.1633G>A
1 paper
NM_001163278.2
p.E541A
c.1622A>C
1 paper
NM_001163278.2
p.G538R
c.1612G>A
1 paper
NM_001163278.2
p.N570S
c.1709A>G
1 paper
NM_001163278.2
p.K585N
c.1755G>T
1 paper
NM_001163278.2
p.K585N
c.1755G>C
1 paper
NM_001163278.2
p.P592L
c.1775C>T
1 paper
NM_001163278.2
p.G642E
c.1925G>A
1 paper
NM_001163278.2
p.G649S
c.1945G>A
1 paper
NM_001163278.2
p.T657K
c.1970C>A
1 paper
NM_001163278.2
p.Q665P
c.1994A>C
1 paper
NM_001163278.2
p.D682N
c.2044G>A
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