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

4 papers

NM_017617.5

p.P422T

c.1264C>A

Surrounding Variants

7 papers

NM_017617.5

p.P422S

c.1264C>T

3 papers

NM_017617.5

p.P422R

c.1265C>G

1 paper

NM_017617.5

p.N421K

c.1263C>G

1 paper

NM_017617.5

p.P422H

c.1265C>A

3 papers

NM_017617.5

p.C423G

c.1267T>G

2 papers

NM_017617.5

p.C423R

c.1267T>C

2 papers

NM_017617.5

p.C423S

c.1267T>A

1 paper

NM_017617.5

p.N421fs

c.1261_1262fs

1 paper

NM_017617.5

p.G419_A420delFs

c.1256_1260del5

2 papers

NM_017617.5

p.C423F

c.1268G>T

2 papers

NM_017617.5

p.C423S

c.1268G>C

6 papers

NM_017617.5

p.C423Y

c.1268G>A