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.Q1584_N1587del0

c.4750_4761del12

Surrounding Variants

1 paper

NM_017617.5

p.S1588N

c.4763G>A

1 paper

NM_017617.5

p.S1588_S1589insFs

c.4764_4765ins5

1 paper

NM_017617.5

p.N1587I

c.4760A>T

1 paper

NM_017617.5

p.N1587S

c.4760A>G

2 papers

NM_017617.5

p.R1586_N1587insFs

c.4758_4759insCA

1 paper

NM_017617.5

p.N1587fs

c.4759_4760fs

3 papers

NM_017617.5

p.S1589F

c.4766C>T

1 paper

NM_017617.5

p.S1589C

c.4766C>G

2 papers

NM_017617.5

p.R1586P

c.4757G>C

2 papers

NM_017617.5

p.R1586H

c.4757G>A

4 papers

NM_017617.5

p.R1586C

c.4756C>T

2 papers

NM_017617.5

p.R1586S

c.4756C>A