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.D1533N

c.4597G>A

Surrounding Variants

1 paper

NM_017617.5

p.D1533Y

c.4597G>T

2 papers

NM_017617.5

p.Y1532*

c.4596C>G

1 paper

NM_017617.5

p.Y1532fs

c.4594_4595fs

2 papers

NM_017617.5

p.Y1532*

c.4596C>A

3 papers

NM_017617.5

p.D1533G

c.4598A>G

2 papers

NM_017617.5

p.Q1534*

c.4600C>T

1 paper

NM_017617.5

p.Q1534E

c.4600C>G

1 paper

NM_017617.5

p.Y1535H

c.4603T>C

1 paper

NM_017617.5

p.Y1535N

c.4603T>A

2 papers

NM_017617.5

p.L1531fs

c.4591_4592fs

1 paper

NM_017617.5

p.L1531insFs

c.4591_4592insT

1 paper

NM_017617.5

p.L1531M

c.4591C>A