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.S608C

c.1823C>G

Surrounding Variants

1 paper

NM_017617.5

p.S608Y

c.1823C>A

1 paper

NM_017617.5

p.S609insFs

c.1826_1827insT

5 papers

NM_017617.5

p.C607Y

c.1820G>A

1 paper

NM_017617.5

p.S609R

c.1827C>A

5 papers

NM_017617.5

p.Q610*

c.1828C>T

1 paper

NM_017617.5

p.Q610H

c.1830G>T

1 paper

NM_017617.5

p.E606*

c.1816G>T

1 paper

NM_017617.5

p.Q610H

c.1830G>C

5 papers

NM_017617.5

p.E606K

c.1816G>A

2 papers

NM_017617.5

p.N605S

c.1814A>G

1 paper

NM_017617.5

p.P611fs

c.1831_1832fs

1 paper

NM_017617.5

p.N605D

c.1813A>G