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.S435S

c.1305C>A

Surrounding Variants

1 paper

NM_017617.5

p.S435S

c.1305C>G

3 papers

NM_017617.5

p.F436L

c.1306T>C

1 paper

NM_017617.5

p.S435F

c.1304C>T

2 papers

NM_017617.5

p.S435A

c.1303T>G

1 paper

NM_017617.5

p.S435P

c.1303T>C

2 papers

NM_017617.5

p.F436L

c.1308C>G

1 paper

NM_017617.5

p.G434fs

c.1300_1301fs

2 papers

NM_017617.5

p.F436L

c.1308C>A

1 paper

NM_017617.5

p.N421_G434delFs

c.1262_1301del40

2 papers

NM_017617.5

p.E437*

c.1309G>T

1 paper

NM_017617.5

p.G434V

c.1301G>T

4 papers

NM_017617.5

p.G434D

c.1301G>A