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.G419Splc

c.1256-2A>G

Surrounding Variants

2 papers

NM_017617.5

p.G419C

c.1255G>T

2 papers

NM_017617.5

p.G419R

c.1255G>C

1 paper

NM_017617.5

p.G419Splc

c.1256-1G>A

1 paper

NM_017617.5

p.G419A

c.1256G>C

5 papers

NM_017617.5

p.G419D

c.1256G>A

1 paper

NM_017617.5

p.A420S

c.1258G>T

3 papers

NM_017617.5

p.A420T

c.1258G>A

1 paper

NM_017617.5

p.A420V

c.1259C>T

1 paper

NM_017617.5

p.N421fs

c.1261_1262fs

1 paper

NM_017617.5

p.G419_A420delFs

c.1256_1260del5

1 paper

NM_017617.5

p.N421K

c.1263C>G

7 papers

NM_017617.5

p.P422S

c.1264C>T