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

3 papers

NM_017617.5

p.P877L

c.2630C>T

Surrounding Variants

1 paper

NM_017617.5

p.P877Q

c.2630C>A

2 papers

NM_017617.5

p.P877P

c.2631G>A

1 paper

NM_017617.5

p.S876S

c.2628C>T

1 paper

NM_017617.5

p.S876R

c.2628C>A

1 paper

NM_017617.5

p.C878Y

c.2633G>A

1 paper

NM_017617.5

p.C878*

c.2634C>A

1 paper

NM_017617.5

p.L875L

c.2625G>T

1 paper

NM_017617.5

p.L875L

c.2625G>C

5 papers

NM_017617.5

p.R879W

c.2635C>T

1 paper

NM_017617.5

p.R879R

c.2635C>A

11 papers

NM_017617.5

p.R879Q

c.2636G>A

1 paper

NM_017617.5

p.R879R

c.2637G>A