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

2 papers

NM_017617.5

p.V1577L

c.4729G>T

Surrounding Variants

1 paper

NM_017617.5

p.V1577L

c.4729G>C

1 paper

NM_017617.5

p.V1577M

c.4729G>A

1 paper

NM_017617.5

p.V1577A

c.4730T>C

2 papers

NM_017617.5

p.V1577E

c.4730T>A

1 paper

NM_017617.5

p.V1576A

c.4727T>C

4 papers

NM_017617.5

p.V1576E

c.4727T>A

3 papers

NM_017617.5

p.V1576M

c.4726G>A

1 paper

NM_017617.5

p.V1578M

c.4732G>A

2 papers

NM_017617.5

p.V1578G

c.4733T>G

1 paper

NM_017617.5

p.V1578A

c.4733T>C

7 papers

NM_017617.5

p.V1578E

c.4733T>A

1 paper

NM_017617.5

p.V1575V

c.4725G>T