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.I567insFs

c.1699dupA

Surrounding Variants

1 paper

NM_017617.5

p.I567fs

c.1699_1700fs

7 papers

NM_017617.5

p.I567V

c.1699A>G

1 paper

NM_017617.5

p.D568Y

c.1702G>T

1 paper

NM_017617.5

p.D568N

c.1702G>A

1 paper

NM_017617.5

p.D566fs

c.1696_1697fs

2 papers

NM_017617.5

p.D566E

c.1698C>A

1 paper

NM_017617.5

p.D566insFs

c.1697_1698ins8

2 papers

NM_017617.5

p.D566N

c.1696G>A

1 paper

NM_017617.5

p.E569*

c.1705G>T

1 paper

NM_017617.5

p.E569Q

c.1705G>C

1 paper

NM_017617.5

p.V565delFs

c.1694delA

1 paper

NM_017617.5

p.V565L

c.1693G>T