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.N1603K

c.4809C>A

Surrounding Variants

1 paper

NM_017617.5

p.N1603K

c.4809C>G

1 paper

NM_017617.5

p.N1603fs

c.4807_4808fs

1 paper

NM_017617.5

p.V1604M

c.4810G>A

6 papers

NM_017617.5

p.V1604G

c.4811T>G

3 papers

NM_017617.5

p.V1604E

c.4811T>A

1 paper

NM_017617.5

p.N1603Y

c.4807A>T

1 paper

NM_017617.5

p.V1605I

c.4813G>A

2 papers

NM_017617.5

p.T1602I

c.4805C>T

1 paper

NM_017617.5

p.V1605G

c.4814T>G

1 paper

NM_017617.5

p.V1605A

c.4814T>C

2 papers

NM_017617.5

p.V1605D

c.4814T>A

6 papers

NM_017617.5

p.V1605fs

c.4813_4814fs