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.A1571T

c.4711G>A

Surrounding Variants

1 paper

NM_017617.5

p.A1571P

c.4711G>C

1 paper

NM_017617.5

p.A1571fs

c.4711_4712fs

1 paper

NM_017617.5

p.A1571delFs

c.4711delC

2 papers

NM_017617.5

p.A1570G

c.4709C>G

1 paper

NM_017617.5

p.A1570P

c.4708G>C

4 papers

NM_017617.5

p.G1572S

c.4714G>A

1 paper

NM_017617.5

p.A1570T

c.4708G>A

1 paper

NM_017617.5

p.L1569L

c.4707G>C

3 papers

NM_017617.5

p.G1572D

c.4715G>A

1 paper

NM_017617.5

p.L1569P

c.4706T>C

3 papers

NM_017617.5

p.G1572insFs

c.4715_4716ins5

3 papers

NM_017617.5

p.T1573fs

c.4717_4718fs