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.S2467W

c.7400C>G

Surrounding Variants

3 papers

NM_017617.5

p.S2467L

c.7400C>T

16 papers

NM_017617.5

p.S2467*

c.7400C>A

1 paper

NM_017617.5

p.S2467delFs

c.7399delA

1 paper

NM_017617.5

p.T2466_S2467insFs

c.7398_7399insGG

1 paper

NM_017617.5

p.T2466insFs

c.7397_7398dupCG

1 paper

NM_017617.5

p.S2467Fs

c.7399delinsAGTFs

1 paper

NM_017617.5

p.S2467_L2468insFs

c.7401_7402ins11

11 papers

NM_017617.5

p.S2467fs

c.7399_7400fs

1 paper

NM_017617.5

p.S2467S

c.7401G>A

5 papers

NM_017617.5

p.S2467fs

c.7399_7400fs

1 paper

NM_017617.5

p.T2466_S2467insFs

c.7398_7399ins8

1 paper

NM_017617.5

p.T2466_S2467insFs

c.7398_7399ins5