Varaico: Literature-Extracted Genetic Variants

Gene:TENM3
Variant:p.R2692W

TENM3

219 papers

RefSeq Summary

This gene encodes a member of the teneurin transmembrane protein family. The encoded protein may be involved in the regulation of neuronal development including development of the visual pathway. Muta...

Pfam Domains

Ten_Naa 11–175UCSCTeneurin Intracellular Region
GBD_Tenm3aa 382–511UCSCTeneurin-3-like, galactose-binding domain-like
EGF_Teneurinaa 518–547UCSCTeneurin-like EGF domain
EGF_Teneurinaa 549–578UCSCTeneurin-like EGF domain
EGF_Teneurinaa 583–612UCSCTeneurin-like EGF domain
EGF_Teneurinaa 615–644UCSCTeneurin-like EGF domain

Gene Aliases

HGNC Name

teneurin transmembrane protein 3

HGNC Previous Symbol

ODZ3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080477.4
p.R2692W
c.8074C>T
Surrounding Variants
1 paper
NM_001080477.4
p.Y2670F
c.8009A>T
2 papers
NM_001080477.4
p.Q2665P
c.7994A>C
1 paper
NM_001080477.4
p.G2662S
c.7984G>A
1 paper
NM_001080477.4
p.T2651M
c.7952C>T
1 paper
NM_001080477.4
p.R2635C
c.7903C>T
1 paper
NM_001080477.4
p.A2624V
c.7871C>T
1 paper
NM_001080477.4
p.I2620M
c.7860C>G
1 paper
NM_001080477.4
p.R2619C
c.7855C>T
1 paper
NM_001080477.4
p.A2618A
c.7854G>A
1 paper
NM_001080477.4
p.G2610D
c.7829G>A
1 paper
NM_001080477.4
p.D2595N
c.7783G>A
1 paper
NM_001080477.4
p.R2592G
c.7774A>G
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