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.E2506K

c.7516G>A

Surrounding Variants

6 papers

NM_017617.5

p.E2506*

c.7516G>T

1 paper

NM_017617.5

p.P2505fs

c.7513_7514fs

2 papers

NM_017617.5

p.P2505P

c.7515T>G

1 paper

NM_017617.5

p.E2506D

c.7518G>T

1 paper

NM_017617.5

p.E2506D

c.7518G>C

1 paper

NM_017617.5

p.P2505R

c.7514C>G

1 paper

NM_017617.5

p.H2507Y

c.7519C>T

1 paper

NM_017617.5

p.P2505A

c.7513C>G

1 paper

NM_017617.5

p.E2506delFs

c.7517_7518delCT

2 papers

NM_017617.5

p.H2507fs

c.7519_7520fs

1 paper

NM_017617.5

p.V2504fs

c.7510_7511fs

1 paper

NM_017617.5

p.H2507L

c.7520A>T