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.P2514P

c.7542T>C

Surrounding Variants

1 paper

NM_017617.5

p.P2514insFs

c.7541_7542insC

78 papers

NM_017617.5

p.P2514fs

c.7540_7541fs

1 paper

NM_017617.5

p.P2514_E2515insFs

c.7542_7543insA

2 papers

NM_017617.5

p.P2514delFs

c.7541delG

1 paper

NM_017617.5

p.P2514delins

c.7541_7542delinsGC

1 paper

NM_017617.5

p.P2514delFs

c.7540_7541delGG

9 papers

NM_017617.5

p.E2515*

c.7543G>T

1 paper

NM_017617.5

p.E2515insFs

c.7543_7544insA

89 papers

NM_017617.5

p.P2514delFs

c.7541_7542delAG

7 papers

NM_017617.5

p.P2514del1

c.7540_7541delAGG

2 papers

NM_017617.5

p.E2515fs

c.7543_7544fs

4 papers

NM_017617.5

p.P2514L

c.7541C>T