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

4 papers

NM_017617.5

p.A1700D

c.5099C>A

Surrounding Variants

4 papers

NM_017617.5

p.A1700P

c.5098G>C

2 papers

NM_017617.5

p.A1700T

c.5098G>A

1 paper

NM_017617.5

p.V1699fs

c.5095_5096fs

11 papers

NM_017617.5

p.A1701P

c.5101G>C

4 papers

NM_017617.5

p.A1701T

c.5101G>A

2 papers

NM_017617.5

p.V1699E

c.5096T>A

1 paper

NM_017617.5

p.V1699L

c.5095G>T

1 paper

NM_017617.5

p.V1699M

c.5095G>A

1 paper

NM_017617.5

p.A1701A

c.5103A>G

32 papers

NM_017617.5

p.D1698D

c.5094C>T

1 paper

NM_017617.5

p.D1698E

c.5094C>G

1 paper

NM_017617.5

p.D1698E

c.5094C>A