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

6 papers

NM_017617.5

p.C461Y

c.1382G>A

Surrounding Variants

5 papers

NM_017617.5

p.C461F

c.1382G>T

7 papers

NM_017617.5

p.C461S

c.1382G>C

1 paper

NM_017617.5

p.C461delins

c.1381_1382delinsAA

3 papers

NM_017617.5

p.C461G

c.1381T>G

2 papers

NM_017617.5

p.C461R

c.1381T>C

7 papers

NM_017617.5

p.C461S

c.1381T>A

1 paper

NM_017617.5

p.E450_P460del11

c.1348_1379del33

3 papers

NM_017617.5

p.C461W

c.1383C>G

1 paper

NM_017617.5

p.C461*

c.1383C>A

1 paper

NM_017617.5

p.P460delFs

c.1379delG

4 papers

NM_017617.5

p.Q462*

c.1384C>T

11 papers

NM_017617.5

p.P460L

c.1379C>T