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.I1675M

c.5025C>G

Surrounding Variants

1 paper

NM_017617.5

p.I1675I

c.5025C>T

1 paper

NM_017617.5

p.I1675N

c.5024T>A

4 papers

NM_017617.5

p.V1676F

c.5026G>T

1 paper

NM_017617.5

p.V1676L

c.5026G>C

11 papers

NM_017617.5

p.V1676I

c.5026G>A

2 papers

NM_017617.5

p.I1675del1

c.5023_5025delGAT

1 paper

NM_017617.5

p.V1676A

c.5027T>C

9 papers

NM_017617.5

p.V1676D

c.5027T>A

1 paper

NM_017617.5

p.I1675F

c.5023A>T

1 paper

NM_017617.5

p.V1676fs

c.5026_5027fs

4 papers

NM_017617.5

p.V1676del1

c.5026_5027delGAC

1 paper

NM_017617.5

p.S1674F

c.5021C>T