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.Y1535H

c.4603T>C

Surrounding Variants

1 paper

NM_017617.5

p.Y1535N

c.4603T>A

1 paper

NM_017617.5

p.Y1535*

c.4605C>G

1 paper

NM_017617.5

p.Y1535*

c.4605C>A

4 papers

NM_017617.5

p.C1536R

c.4606T>C

2 papers

NM_017617.5

p.Q1534*

c.4600C>T

1 paper

NM_017617.5

p.Q1534E

c.4600C>G

2 papers

NM_017617.5

p.C1536F

c.4607G>T

1 paper

NM_017617.5

p.C1536Y

c.4607G>A

1 paper

NM_017617.5

p.C1536W

c.4608C>G

3 papers

NM_017617.5

p.D1533G

c.4598A>G

1 paper

NM_017617.5

p.D1533Y

c.4597G>T

1 paper

NM_017617.5

p.D1533N

c.4597G>A