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

19 papers

NM_017617.5

p.R621H

c.1862G>A

Surrounding Variants

1 paper

NM_017617.5

p.R621L

c.1862G>T

1 paper

NM_017617.5

p.R621R

c.1863C>T

1 paper

NM_017617.5

p.R621C

c.1861C>T

1 paper

NM_017617.5

p.R621G

c.1861C>G

1 paper

NM_017617.5

p.D622N

c.1864G>A

1 paper

NM_017617.5

p.N623Y

c.1867A>T

1 paper

NM_017617.5

p.Q619L

c.1856A>T

6 papers

NM_017617.5

p.N623S

c.1868A>G

1 paper

NM_017617.5

p.C618_Q619delins

c.1854_1856delinsTCT

3 papers

NM_017617.5

p.Q619*

c.1855C>T

2 papers

NM_017617.5

p.N623K

c.1869C>G

1 paper

NM_017617.5

p.N623fs

c.1867_1868fs