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.H425Y

c.1273C>T

Surrounding Variants

3 papers

NM_017617.5

p.H425N

c.1273C>A

3 papers

NM_017617.5

p.E424D

c.1272G>T

1 paper

NM_017617.5

p.E424_H425insFs

c.1272_1273ins4

2 papers

NM_017617.5

p.E424D

c.1272G>C

1 paper

NM_017617.5

p.H425R

c.1274A>G

1 paper

NM_017617.5

p.H425fs

c.1273_1274fs

1 paper

NM_017617.5

p.E424_H425ins0

c.1272_1274dupGCA

1 paper

NM_017617.5

p.H425H

c.1275T>C

1 paper

NM_017617.5

p.E424G

c.1271A>G

3 papers

NM_017617.5

p.E424*

c.1270G>T

1 paper

NM_017617.5

p.A426S

c.1276G>T

1 paper

NM_017617.5

p.A426_G427ins4

c.1276_1280ins12