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.H2500P

c.7499A>C

Surrounding Variants

1 paper

NM_017617.5

p.H2500L

c.7499A>T

10 papers

NM_017617.5

p.Q2501*

c.7501C>T

1 paper

NM_017617.5

p.S2499ins1

c.7496_7497insTCC

1 paper

NM_017617.5

p.N2496_S2499delins

c.7488_7496delinsGGTTAGTGCCCACAA

2 papers

NM_017617.5

p.Q2501fs

c.7501_7502fs

2 papers

NM_017617.5

p.P2498delFs

c.7494delG

1 paper

NM_017617.5

p.L2502V

c.7504C>G

1 paper

NM_017617.5

p.P2498fs

c.7492_7493fs

1 paper

NM_017617.5

p.L2502P

c.7505T>C

1 paper

NM_017617.5

p.P2493_L2502delins

c.7478_7505delinsTCTCCTGAAGAGG

2 papers

NM_017617.5

p.P2498H

c.7493C>A

2 papers

NM_017617.5

p.P2498T

c.7492C>A