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.C563S

c.1688G>C

Surrounding Variants

2 papers

NM_017617.5

p.C563R

c.1687T>C

1 paper

NM_017617.5

p.C563S

c.1687T>A

1 paper

NM_017617.5

p.C563C

c.1689C>T

3 papers

NM_017617.5

p.E564*

c.1690G>T

1 paper

NM_017617.5

p.C563_E564insFs

c.1689_1690ins10

1 paper

NM_017617.5

p.E564K

c.1690G>A

1 paper

NM_017617.5

p.H562fs

c.1684_1685fs

2 papers

NM_017617.5

p.H562R

c.1685A>G

1 paper

NM_017617.5

p.H562insFs

c.1684_1685insCC

1 paper

NM_017617.5

p.H562delFs

c.1684delG

2 papers

NM_017617.5

p.E564D

c.1692G>T

2 papers

NM_017617.5

p.E564D

c.1692G>C