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.W1556S

c.4667G>C

Surrounding Variants

3 papers

NM_017617.5

p.W1556*

c.4667G>A

3 papers

NM_017617.5

p.W1556*

c.4668G>A

2 papers

NM_017617.5

p.E1555D

c.4665G>T

2 papers

NM_017617.5

p.E1555D

c.4665G>C

10 papers

NM_017617.5

p.E1555*

c.4663G>T

3 papers

NM_017617.5

p.E1555K

c.4663G>A

3 papers

NM_017617.5

p.G1558R

c.4672G>C

3 papers

NM_017617.5

p.G1558R

c.4672G>A

3 papers

NM_017617.5

p.C1554*

c.4662C>A

3 papers

NM_017617.5

p.G1558E

c.4673G>A

1 paper

NM_017617.5

p.C1554Y

c.4661G>A

1 paper

NM_017617.5

p.C1554G

c.4660T>G