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.W327L

c.980G>T

Surrounding Variants

1 paper

NM_017617.5

p.W327*

c.980G>A

1 paper

NM_017617.5

p.G318_N325del8

c.952_974del24

1 paper

NM_017617.5

p.W327R

c.979T>C

1 paper

NM_017617.5

p.W327R

c.979T>A

4 papers

NM_017617.5

p.W327C

c.981G>T

4 papers

NM_017617.5

p.W327C

c.981G>C

1 paper

NM_017617.5

p.W327*

c.981G>A

2 papers

NM_017617.5

p.T328S

c.982A>T

5 papers

NM_017617.5

p.G326V

c.977G>T

2 papers

NM_017617.5

p.G326D

c.977G>A

1 paper

NM_017617.5

p.T328I

c.983C>T

3 papers

NM_017617.5

p.T328S

c.983C>G