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.P2458fs

c.7372_7373fs

Surrounding Variants

1 paper

NM_017617.5

p.P2458_Q2459insFs

c.7374_7375insT

1 paper

NM_017617.5

p.Q2459fs

c.7375_7376fs

17 papers

NM_017617.5

p.Q2459*

c.7375C>T

1 paper

NM_017617.5

p.Q2459K

c.7375C>A

1 paper

NM_017617.5

p.P2458S

c.7372C>T

2 papers

NM_017617.5

p.P2458T

c.7372C>A

1 paper

NM_017617.5

p.Q2459R

c.7376A>G

4 papers

NM_017617.5

p.Q2459delFs

c.7375delG

3 papers

NM_017617.5

p.Q2459fs

c.7375_7376fs

2 papers

NM_017617.5

p.L2457fs

c.7369_7370fs

7 papers

NM_017617.5

p.E2460*

c.7378G>T

1 paper

NM_017617.5

p.L2457fs

c.7369_7370fs