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.V324G

c.971T>G

Surrounding Variants

1 paper

NM_017617.5

p.V324A

c.971T>C

1 paper

NM_017617.5

p.V324D

c.971T>A

1 paper

NM_017617.5

p.V324V

c.972C>G

1 paper

NM_017617.5

p.C323W

c.969T>G

3 papers

NM_017617.5

p.N325Y

c.973A>T

1 paper

NM_017617.5

p.N325D

c.973A>G

3 papers

NM_017617.5

p.C323F

c.968G>T

5 papers

NM_017617.5

p.C323Y

c.968G>A

2 papers

NM_017617.5

p.C323R

c.967T>C

3 papers

NM_017617.5

p.N325K

c.975C>G

3 papers

NM_017617.5

p.N325K

c.975C>A

1 paper

NM_017617.5

p.G326C

c.976G>T