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.H2488L

c.7463A>T

Surrounding Variants

1 paper

NM_017617.5

p.S2486_Q2487del2

c.7456_7460del6

1 paper

NM_017617.5

p.Q2487fs

c.7459_7460fs

1 paper

NM_017617.5

p.S2486_H2488delFs

c.7458_7464del7

2 papers

NM_017617.5

p.Q2487L

c.7460A>T

1 paper

NM_017617.5

p.S2486_Q2487del1

c.7457_7459delGCG

1 paper

NM_017617.5

p.S2486_Q2487delFs

c.7456_7459del4

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.Y2490insFs

c.7468_7469ins49

1 paper

NM_017617.5

p.Y2490_S2491insT

c.7468_7472ins3

4 papers

NM_017617.5

p.S2486fs

c.7456_7457fs

1 paper

NM_017617.5

p.Y2490fs

c.7468_7469fs