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.E455D

c.1365G>T

Surrounding Variants

1 paper

NM_017617.5

p.E455fs

c.1363_1364fs

1 paper

NM_017617.5

p.E455D

c.1365G>C

1 paper

NM_017617.5

p.E455E

c.1365G>A

2 papers

NM_017617.5

p.C456G

c.1366T>G

6 papers

NM_017617.5

p.C456R

c.1366T>C

2 papers

NM_017617.5

p.C456S

c.1366T>A

1 paper

NM_017617.5

p.E455delFs

c.1365delC

1 paper

NM_017617.5

p.N454_E455delFs

c.1362_1365del4

4 papers

NM_017617.5

p.E455V

c.1364A>T

2 papers

NM_017617.5

p.E455G

c.1364A>G

2 papers

NM_017617.5

p.E455*

c.1363G>T

1 paper

NM_017617.5

p.C456F

c.1367G>T