Varaico: Literature-Extracted Genetic Variants

NOTCH1

2,810 papers

RefSeq Summary

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multipl...

Pfam Domains

EGFaa 106–137UCSCEGF-like domain

EGFaa 144–174UCSCEGF-like domain

EGF_CAaa 178–219UCSCCalcium-binding EGF domain

EGFaa 222–253UCSCEGF-like domain

EGFaa 261–291UCSCEGF-like domain

EGF_CAaa 295–335UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 1

HGNC Previous Symbol

TAN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017617.5

p.P2485insFs

c.7455dupC

Surrounding Variants

5 papers

NM_017617.5

p.P2485delFs

c.7455delG

6 papers

NM_017617.5

p.S2486fs

c.7456_7457fs

5 papers

NM_017617.5

p.S2486L

c.7457C>T

1 paper

NM_017617.5

p.S2486insFs

c.7457_7458ins16

4 papers

NM_017617.5

p.P2485fs

c.7453_7454fs

3 papers

NM_017617.5

p.S2486*

c.7457C>A

4 papers

NM_017617.5

p.S2486fs

c.7456_7457fs

15 papers

NM_017617.5

p.Q2487*

c.7459C>T

1 paper

NM_017617.5

p.Q2487K

c.7459C>A

1 paper

NM_017617.5

p.P2484fs

c.7450_7451fs

2 papers

NM_017617.5

p.Q2487L

c.7460A>T

1 paper

NM_017617.5

p.S2486_Q2487del1

c.7457_7459delGCG