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.K631N

c.1893G>C

Surrounding Variants

1 paper

NM_017617.5

p.G632R

c.1894G>C

1 paper

NM_017617.5

p.G632R

c.1894G>A

1 paper

NM_017617.5

p.G632E

c.1895G>A

1 paper

NM_017617.5

p.K631*

c.1891A>T

1 paper

NM_017617.5

p.L630delFs

c.1888delG

1 paper

NM_017617.5

p.T633S

c.1897A>T

1 paper

NM_017617.5

p.G632_T633Fs

c.1896_1897delinsTFs

1 paper

NM_017617.5

p.L630L

c.1888C>T

1 paper

NM_017617.5

p.T633S

c.1898C>G

1 paper

NM_017617.5

p.C629*

c.1887C>A

1 paper

NM_017617.5

p.C629F

c.1886G>T

1 paper

NM_017617.5

p.C629S

c.1886G>C