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.G578A

c.1733G>C

Surrounding Variants

2 papers

NM_017617.5

p.G578R

c.1732G>C

1 paper

NM_017617.5

p.D566_G578del13

c.1696_1733del39

1 paper

NM_017617.5

p.Y577*

c.1731C>G

1 paper

NM_017617.5

p.Y577*

c.1731C>A

1 paper

NM_017617.5

p.C580R

c.1738T>C

1 paper

NM_017617.5

p.C580S

c.1738T>A

1 paper

NM_017617.5

p.C580S

c.1739G>C

1 paper

NM_017617.5

p.C580Y

c.1739G>A

1 paper

NM_017617.5

p.H576L

c.1727A>T

1 paper

NM_017617.5

p.H576Y

c.1726C>T

1 paper

NM_017617.5

p.C580fs

c.1738_1739fs

2 papers

NM_017617.5

p.C580*

c.1740C>A