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

2 papers

NM_017617.5

p.C467S

c.1400G>C

Surrounding Variants

8 papers

NM_017617.5

p.C467F

c.1400G>T

7 papers

NM_017617.5

p.C467Y

c.1400G>A

1 paper

NM_017617.5

p.C467G

c.1399T>G

2 papers

NM_017617.5

p.C467R

c.1399T>C

2 papers

NM_017617.5

p.C467S

c.1399T>A

2 papers

NM_017617.5

p.C467W

c.1401C>G

1 paper

NM_017617.5

p.C467*

c.1401C>A

2 papers

NM_017617.5

p.L468L

c.1402C>T

1 paper

NM_017617.5

p.L468V

c.1402C>G

1 paper

NM_017617.5

p.L468insFs

c.1402_1403insG

1 paper

NM_017617.5

p.T466T

c.1398C>A

1 paper

NM_017617.5

p.V457_C467del11

c.1369_1400del33