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.G367S

c.1099G>A

Surrounding Variants

1 paper

NM_017617.5

p.G367R

c.1099G>C

2 papers

NM_017617.5

p.G367Splc

c.1099+1G>T

3 papers

NM_017617.5

p.G367Splc

c.1099+1G>C

2 papers

NM_017617.5

p.G367Splc

c.1099+1G>A

1 paper

NM_017617.5

p.G367Splc

c.1099+2T>A

1 paper

NM_017617.5

p.T366I

c.1097C>T

1 paper

NM_017617.5

p.T366S

c.1096A>T

7 papers

NM_017617.5

p.R365H

c.1094G>A

24 papers

NM_017617.5

p.R365C

c.1093C>T

2 papers

NM_017617.5

p.G364G

c.1092C>A

2 papers

NM_017617.5

p.G364C

c.1090G>T

1 paper

NM_017617.5

p.H363fs

c.1087_1088fs