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.S1551I

c.4652G>T

Surrounding Variants

2 papers

NM_017617.5

p.A1552T

c.4654G>A

3 papers

NM_017617.5

p.A1552V

c.4655C>T

1 paper

NM_017617.5

p.A1552G

c.4655C>G

4 papers

NM_017617.5

p.E1553*

c.4657G>T

1 paper

NM_017617.5

p.C1549W

c.4647C>G

1 paper

NM_017617.5

p.C1549*

c.4647C>A

1 paper

NM_017617.5

p.C1549F

c.4646G>T

6 papers

NM_017617.5

p.C1549Y

c.4646G>A

1 paper

NM_017617.5

p.C1554G

c.4660T>G

1 paper

NM_017617.5

p.C1554R

c.4660T>C

1 paper

NM_017617.5

p.C1554Y

c.4661G>A

1 paper

NM_017617.5

p.D1538_Q1547del10

c.4612_4640del30