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.Q2503H

c.7509G>T

Surrounding Variants

1 paper

NM_017617.5

p.Q2503fs

c.7507_7508fs

1 paper

NM_017617.5

p.Q2503H

c.7509G>C

1 paper

NM_017617.5

p.Q2503P

c.7508A>C

2 papers

NM_017617.5

p.V2504A

c.7511T>C

13 papers

NM_017617.5

p.Q2503*

c.7507C>T

1 paper

NM_017617.5

p.V2504fs

c.7510_7511fs

1 paper

NM_017617.5

p.L2502P

c.7505T>C

1 paper

NM_017617.5

p.P2493_L2502delins

c.7478_7505delinsTCTCCTGAAGAGG

1 paper

NM_017617.5

p.P2505A

c.7513C>G

1 paper

NM_017617.5

p.P2505R

c.7514C>G

1 paper

NM_017617.5

p.L2502V

c.7504C>G

1 paper

NM_017617.5

p.P2505fs

c.7513_7514fs