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

51 papers

NM_017617.5

p.A465T

c.1393G>A

Surrounding Variants

1 paper

NM_017617.5

p.A465S

c.1393G>T

2 papers

NM_017617.5

p.A465P

c.1393G>C

1 paper

NM_017617.5

p.A465V

c.1394C>T

1 paper

NM_017617.5

p.A465D

c.1394C>A

1 paper

NM_017617.5

p.D464E

c.1392C>A

2 papers

NM_017617.5

p.D464del1

c.1390_1391delGTC

6 papers

NM_017617.5

p.D464N

c.1390G>A

1 paper

NM_017617.5

p.D464fs

c.1390_1391fs

3 papers

NM_017617.5

p.T466A

c.1396A>G

1 paper

NM_017617.5

p.A465del1

c.1393_1394delGGC

1 paper

NM_017617.5

p.D464_A465del2

c.1390_1394del6

3 papers

NM_017617.5

p.T466I

c.1397C>T