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.S458*

c.1373C>A

Surrounding Variants

3 papers

NM_017617.5

p.S458L

c.1373C>T

1 paper

NM_017617.5

p.S458P

c.1372T>C

1 paper

NM_017617.5

p.S458_N459insFs

c.1374_1375ins13

2 papers

NM_017617.5

p.N459D

c.1375A>G

2 papers

NM_017617.5

p.N459S

c.1376A>G

1 paper

NM_017617.5

p.V457I

c.1369G>A

1 paper

NM_017617.5

p.N459K

c.1377C>A

1 paper

NM_017617.5

p.P460fs

c.1378_1379fs

4 papers

NM_017617.5

p.P460S

c.1378C>T

1 paper

NM_017617.5

p.C456W

c.1368C>G

1 paper

NM_017617.5

p.C456*

c.1368C>A

1 paper

NM_017617.5

p.C456F

c.1367G>T