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.C361S

c.1081T>A

Surrounding Variants

3 papers

NM_017617.5

p.C361R

c.1081T>C

2 papers

NM_017617.5

p.C361F

c.1082G>T

1 paper

NM_017617.5

p.C361S

c.1082G>C

1 paper

NM_017617.5

p.E360D

c.1080G>C

1 paper

NM_017617.5

p.C361Y

c.1082G>A

1 paper

NM_017617.5

p.C361*

c.1083T>A

6 papers

NM_017617.5

p.E360*

c.1078G>T

3 papers

NM_017617.5

p.E360K

c.1078G>A

2 papers

NM_017617.5

p.P362S

c.1084C>T

1 paper

NM_017617.5

p.P362_H363ins8

c.1084_1088ins24

5 papers

NM_017617.5

p.C359W

c.1077C>G

6 papers

NM_017617.5

p.C359*

c.1077C>A