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.T432_L433Fs

c.1296_1297delinsTFs

Surrounding Variants

1 paper

NM_017617.5

p.L433L

c.1297C>T

1 paper

NM_017617.5

p.T432fs

c.1294_1295fs

14 papers

NM_017617.5

p.T432M

c.1295C>T

1 paper

NM_017617.5

p.T432insFs

c.1294dupA

3 papers

NM_017617.5

p.N431del1

c.1291_1292delGTT

1 paper

NM_017617.5

p.I430_N431del2

c.1288_1292del6

4 papers

NM_017617.5

p.G434C

c.1300G>T

1 paper

NM_017617.5

p.G434S

c.1300G>A

1 paper

NM_017617.5

p.G434V

c.1301G>T

4 papers

NM_017617.5

p.G434D

c.1301G>A

5 papers

NM_017617.5

p.N431K

c.1293C>G

5 papers

NM_017617.5

p.N431K

c.1293C>A