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

3 papers

NM_017617.5

p.D469Y

c.1405G>T

Surrounding Variants

1 paper

NM_017617.5

p.D469H

c.1405G>C

7 papers

NM_017617.5

p.D469N

c.1405G>A

1 paper

NM_017617.5

p.L468fs

c.1402_1403fs

1 paper

NM_017617.5

p.D469V

c.1406A>T

6 papers

NM_017617.5

p.D469G

c.1406A>G

1 paper

NM_017617.5

p.D469A

c.1406A>C

1 paper

NM_017617.5

p.L468R

c.1403T>G

2 papers

NM_017617.5

p.L468P

c.1403T>C

4 papers

NM_017617.5

p.L468Q

c.1403T>A

1 paper

NM_017617.5

p.D469E

c.1407C>G

1 paper

NM_017617.5

p.D469E

c.1407C>A

3 papers

NM_017617.5

p.Q470*

c.1408C>T