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.G443C

c.1327G>T

Surrounding Variants

1 paper

NM_017617.5

p.G443R

c.1327G>C

1 paper

NM_017617.5

p.G443S

c.1327G>A

1 paper

NM_017617.5

p.G443V

c.1328G>T

1 paper

NM_017617.5

p.Q442H

c.1326G>T

1 paper

NM_017617.5

p.G443A

c.1328G>C

1 paper

NM_017617.5

p.Q442H

c.1326G>C

5 papers

NM_017617.5

p.G443D

c.1328G>A

1 paper

NM_017617.5

p.G443delins

c.1327_1328delinsAA

3 papers

NM_017617.5

p.Q442L

c.1325A>T

1 paper

NM_017617.5

p.Y444H

c.1330T>C

2 papers

NM_017617.5

p.Y444N

c.1330T>A

3 papers

NM_017617.5

p.Q442*

c.1324C>T