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.D337V

c.1010A>T

Surrounding Variants

2 papers

NM_017617.5

p.D337A

c.1010A>C

1 paper

NM_017617.5

p.D337delFs

c.1009delC

1 paper

NM_017617.5

p.D337H

c.1009G>C

2 papers

NM_017617.5

p.D337N

c.1009G>A

1 paper

NM_017617.5

p.I336del1

c.1006_1007delAAT

2 papers

NM_017617.5

p.D338Y

c.1012G>T

2 papers

NM_017617.5

p.D338N

c.1012G>A

2 papers

NM_017617.5

p.I336T

c.1007T>C

1 paper

NM_017617.5

p.D338V

c.1013A>T

3 papers

NM_017617.5

p.D338G

c.1013A>G

1 paper

NM_017617.5

p.D338A

c.1013A>C

1 paper

NM_017617.5

p.D338insFs

c.1013_1014insT