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.H1591N

c.4771C>A

Surrounding Variants

1 paper

NM_017617.5

p.H1591D

c.4771C>G

1 paper

NM_017617.5

p.H1591R

c.4772A>G

1 paper

NM_017617.5

p.F1592V

c.4774T>G

2 papers

NM_017617.5

p.F1592L

c.4774T>C

1 paper

NM_017617.5

p.F1592ins1

c.4775_4776insGAC

1 paper

NM_017617.5

p.F1592ins2

c.4775_4776ins6

1 paper

NM_017617.5

p.F1592C

c.4775T>G

22 papers

NM_017617.5

p.F1592S

c.4775T>C

3 papers

NM_017617.5

p.S1589F

c.4766C>T

3 papers

NM_017617.5

p.F1592L

c.4776C>G

1 paper

NM_017617.5

p.S1589C

c.4766C>G

1 paper

NM_017617.5

p.F1592ins1

c.4775_4776insTTC