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.C449*

c.1347C>A

Surrounding Variants

2 papers

NM_017617.5

p.C449W

c.1347C>G

2 papers

NM_017617.5

p.E450*

c.1348G>T

1 paper

NM_017617.5

p.C449F

c.1346G>T

3 papers

NM_017617.5

p.E450Q

c.1348G>C

3 papers

NM_017617.5

p.C449S

c.1346G>C

17 papers

NM_017617.5

p.E450K

c.1348G>A

4 papers

NM_017617.5

p.C449Y

c.1346G>A

2 papers

NM_017617.5

p.C449G

c.1345T>G

10 papers

NM_017617.5

p.C449R

c.1345T>C

3 papers

NM_017617.5

p.C449S

c.1345T>A

1 paper

NM_017617.5

p.E450V

c.1349A>T

1 paper

NM_017617.5

p.E450D

c.1350G>T