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.C359F

c.1076G>T

Surrounding Variants

2 papers

NM_017617.5

p.C359S

c.1076G>C

3 papers

NM_017617.5

p.C359Y

c.1076G>A

1 paper

NM_017617.5

p.Y358del1

c.1072_1073delGTA

5 papers

NM_017617.5

p.F357_Y358del2

c.1069_1073del6

1 paper

NM_017617.5

p.C359G

c.1075T>G

2 papers

NM_017617.5

p.C359S

c.1075T>A

5 papers

NM_017617.5

p.C359W

c.1077C>G

6 papers

NM_017617.5

p.C359*

c.1077C>A

6 papers

NM_017617.5

p.E360*

c.1078G>T

3 papers

NM_017617.5

p.E360K

c.1078G>A

1 paper

NM_017617.5

p.Y358*

c.1074C>G

18 papers

NM_017617.5

p.F357del1

c.1069_1070delGAA