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.D1542N

c.4624G>A

Surrounding Variants

1 paper

NM_017617.5

p.D1542H

c.4624G>C

1 paper

NM_017617.5

p.S1541S

c.4623C>T

2 papers

NM_017617.5

p.S1541R

c.4623C>G

2 papers

NM_017617.5

p.S1541R

c.4623C>A

1 paper

NM_017617.5

p.D1542A

c.4625A>C

1 paper

NM_017617.5

p.D1542delFs

c.4624delC

1 paper

NM_017617.5

p.S1541N

c.4622G>A

1 paper

NM_017617.5

p.D1542E

c.4626C>A

2 papers

NM_017617.5

p.G1543R

c.4627G>C

3 papers

NM_017617.5

p.G1543R

c.4627G>A

2 papers

NM_017617.5

p.S1541R

c.4621A>C

1 paper

NM_017617.5

p.F1540delFs

c.4620delG