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.T602I

c.1805C>T

Surrounding Variants

1 paper

NM_017617.5

p.E601fs

c.1801_1802fs

1 paper

NM_017617.5

p.N603fs

c.1807_1808fs

1 paper

NM_017617.5

p.N603D

c.1807A>G

1 paper

NM_017617.5

p.T602delFs

c.1806delG

1 paper

NM_017617.5

p.L590_T602del13

c.1768_1805del39

1 paper

NM_017617.5

p.C600_E601insFs

c.1800_1801dupCG

1 paper

NM_017617.5

p.E601K

c.1801G>A

1 paper

NM_017617.5

p.N603fs

c.1807_1808fs

1 paper

NM_017617.5

p.C600C

c.1800C>T

1 paper

NM_017617.5

p.C600*

c.1800C>A

1 paper

NM_017617.5

p.I604T

c.1811T>C

2 papers

NM_017617.5

p.I604delFs

c.1810delT