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

1–12 of 7108 variants

89 papers

NM_017617.5

p.P2514delFs

c.7541_7542delAG

78 papers

NM_017617.5

p.P2514fs

c.7540_7541fs

61 papers

NM_017617.5

p.P2514fs

c.7540_7541fs

51 papers

NM_017617.5

p.A465T

c.1393G>A

48 papers

NM_017617.5

p.L1678P

c.5033T>C

46 papers

NM_017617.5

p.V1578del1

c.4732_4734delCAC

45 papers

NM_017617.5

p.L1600P

c.4799T>C

41 papers

NM_017617.5

p.R912W

c.2734C>T

34 papers

NM_017617.5

p.L1574P

c.4721T>C

32 papers

NM_017617.5

p.D1698D

c.5094C>T

30 papers

NM_017617.5

p.T596M

c.1787C>T

29 papers

NM_017617.5

p.R353C

c.1057C>T