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.L1596L

c.4788C>T

Surrounding Variants

1 paper

NM_017617.5

p.H1591_L1596delins

c.4771_4788delinsCTTCTGGGGGGG

1 paper

NM_017617.5

p.L1596R

c.4787T>G

1 paper

NM_017617.5

p.L1596P

c.4787T>C

14 papers

NM_017617.5

p.L1596H

c.4787T>A

1 paper

NM_017617.5

p.S1597G

c.4789A>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.L1596F

c.4786C>T

1 paper

NM_017617.5

p.E1595fs

c.4783_4784fs

1 paper

NM_017617.5

p.E1595delFs

c.4784delT

1 paper

NM_017617.5

p.S1597R

c.4791C>G