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

3 papers

NM_017617.5

p.R1598C

c.4792C>T

Surrounding Variants

2 papers

NM_017617.5

p.R1598_V1599insS

c.4792_4796ins3

1 paper

NM_017617.5

p.R1598S

c.4792C>A

1 paper

NM_017617.5

p.R1598L

c.4793G>T

25 papers

NM_017617.5

p.R1598P

c.4793G>C

12 papers

NM_017617.5

p.R1598H

c.4793G>A

1 paper

NM_017617.5

p.S1597R

c.4791C>G

2 papers

NM_017617.5

p.S1597I

c.4790G>T

5 papers

NM_017617.5

p.S1597N

c.4790G>A

1 paper

NM_017617.5

p.E1595_S1597delins

c.4785_4790delinsTCAGGC

1 paper

NM_017617.5

p.R1598fs

c.4792_4793fs

2 papers

NM_017617.5

p.R1598delins

c.4793_4794delinsCT

8 papers

NM_017617.5

p.V1599M

c.4795G>A