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

2 papers

NM_017617.5

p.R592S

c.1774C>A

Surrounding Variants

4 papers

NM_017617.5

p.R592C

c.1774C>T

3 papers

NM_017617.5

p.R592H

c.1775G>A

3 papers

NM_017617.5

p.C591*

c.1773C>A

1 paper

NM_017617.5

p.C591S

c.1772G>C

1 paper

NM_017617.5

p.C591R

c.1771T>C

1 paper

NM_017617.5

p.C591S

c.1771T>A

1 paper

NM_017617.5

p.L590P

c.1769T>C

3 papers

NM_017617.5

p.G594S

c.1780G>A

3 papers

NM_017617.5

p.L590F

c.1768C>T

1 paper

NM_017617.5

p.L590V

c.1768C>G

1 paper

NM_017617.5

p.C589F

c.1766G>T

1 paper

NM_017617.5

p.G594_Y595Fs

c.1782_1783delinsGFs