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

2 papers

NM_017617.5

p.N1713D

c.5137A>G

Surrounding Variants

1 paper

NM_017617.5

p.N1713S

c.5138A>G

1 paper

NM_017617.5

p.P1715S

c.5143C>T

2 papers

NM_017617.5

p.G1710D

c.5129G>A

1 paper

NM_017617.5

p.G1710R

c.5128G>C

1 paper

NM_017617.5

p.Y1716F

c.5147A>T

2 papers

NM_017617.5

p.Y1716C

c.5147A>G

10 papers

NM_017617.5

p.L1709P

c.5126T>C

1 paper

NM_017617.5

p.L1706_L1709delFs

c.5118_5125del8

2 papers

NM_017617.5

p.Y1716*

c.5148C>G

2 papers

NM_017617.5

p.Y1716*

c.5148C>A

1 paper

NM_017617.5

p.K1717E

c.5149A>G

2 papers

NM_017617.5

p.Y1716_K1717ins2

c.5148_5149ins6