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.C1692R

c.5074T>C

Surrounding Variants

3 papers

NM_017617.5

p.Q1691Q

c.5073G>A

1 paper

NM_017617.5

p.C1692Y

c.5075G>A

2 papers

NM_017617.5

p.Q1691R

c.5072A>G

1 paper

NM_017617.5

p.F1693L

c.5077T>C

2 papers

NM_017617.5

p.Q1691*

c.5071C>T

1 paper

NM_017617.5

p.Q1691insFs

c.5071_5072ins14

1 paper

NM_017617.5

p.Q1691K

c.5071C>A

3 papers

NM_017617.5

p.F1693S

c.5078T>C

1 paper

NM_017617.5

p.S1690S

c.5070G>A

1 paper

NM_017617.5

p.S1690L

c.5069C>T

1 paper

NM_017617.5

p.F1693L

c.5079C>G

1 paper

NM_017617.5

p.F1693L

c.5079C>A