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.E334D

c.1002G>C

Surrounding Variants

1 paper

NM_017617.5

p.E334D

c.1002G>T

1 paper

NM_017617.5

p.N335Fs

c.1003delinsGAFs

4 papers

NM_017617.5

p.E334K

c.1000G>A

1 paper

NM_017617.5

p.N335I

c.1004A>T

3 papers

NM_017617.5

p.S333R

c.999C>G

1 paper

NM_017617.5

p.N335K

c.1005C>G

2 papers

NM_017617.5

p.S333R

c.999C>A

1 paper

NM_017617.5

p.N335K

c.1005C>A

1 paper

NM_017617.5

p.S333I

c.998G>T

2 papers

NM_017617.5

p.S333N

c.998G>A

2 papers

NM_017617.5

p.I336T

c.1007T>C

2 papers

NM_017617.5

p.S333R

c.997A>C