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.D1560E

c.4680C>A

Surrounding Variants

1 paper

NM_017617.5

p.D1560E

c.4680C>G

1 paper

NM_017617.5

p.C1561S

c.4681T>A

1 paper

NM_017617.5

p.G1558_D1560del3

c.4672_4679del9

1 paper

NM_017617.5

p.D1560G

c.4679A>G

1 paper

NM_017617.5

p.D1560delFs

c.4678delC

1 paper

NM_017617.5

p.C1561S

c.4682G>C

2 papers

NM_017617.5

p.C1561Y

c.4682G>A

1 paper

NM_017617.5

p.D1560fs

c.4678_4679fs

1 paper

NM_017617.5

p.C1561*

c.4683T>A

1 paper

NM_017617.5

p.L1559fs

c.4675_4676fs

1 paper

NM_017617.5

p.L1559R

c.4676T>G

1 paper

NM_017617.5

p.L1559L

c.4675C>T