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.R613L

c.1838G>T

Surrounding Variants

1 paper

NM_017617.5

p.R613P

c.1838G>C

5 papers

NM_017617.5

p.R613H

c.1838G>A

2 papers

NM_017617.5

p.R613C

c.1837C>T

1 paper

NM_017617.5

p.H614D

c.1840C>G

1 paper

NM_017617.5

p.C612*

c.1836C>A

1 paper

NM_017617.5

p.C612F

c.1835G>T

2 papers

NM_017617.5

p.C612S

c.1835G>C

1 paper

NM_017617.5

p.H614L

c.1841A>T

2 papers

NM_017617.5

p.C612S

c.1834T>A

1 paper

NM_017617.5

p.P611delFs

c.1832delG

1 paper

NM_017617.5

p.G615W

c.1843G>T

1 paper

NM_017617.5

p.G615R

c.1843G>C