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.D571N

c.1711G>A

Surrounding Variants

1 paper

NM_017617.5

p.C570C

c.1710C>T

3 papers

NM_017617.5

p.C570*

c.1710C>A

1 paper

NM_017617.5

p.D571V

c.1712A>T

1 paper

NM_017617.5

p.D571A

c.1712A>C

1 paper

NM_017617.5

p.C570Y

c.1709G>A

1 paper

NM_017617.5

p.P572L

c.1715C>T

1 paper

NM_017617.5

p.E569*

c.1705G>T

1 paper

NM_017617.5

p.D573H

c.1717G>C

1 paper

NM_017617.5

p.E569Q

c.1705G>C

1 paper

NM_017617.5

p.D573N

c.1717G>A

7 papers

NM_017617.5

p.D573A

c.1718A>C

1 paper

NM_017617.5

p.D573fs

c.1717_1718fs