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.Q2444_A2452delFs

c.7331_7355del25

Surrounding Variants

1 paper

NM_017617.5

p.A2452insFs

c.7355_7356ins5

5 papers

NM_017617.5

p.A2452fs

c.7354_7355fs

1 paper

NM_017617.5

p.A2452A

c.7356G>A

1 paper

NM_017617.5

p.V2453L

c.7357G>T

2 papers

NM_017617.5

p.V2453L

c.7357G>C

1 paper

NM_017617.5

p.V2453M

c.7357G>A

1 paper

NM_017617.5

p.V2453fs

c.7357_7358fs

4 papers

NM_017617.5

p.A2452V

c.7355C>T

1 paper

NM_017617.5

p.A2452E

c.7355C>A

1 paper

NM_017617.5

p.A2452S

c.7354G>T

1 paper

NM_017617.5

p.V2453fs

c.7357_7358fs

1 paper

NM_017617.5

p.V2453V

c.7359G>A