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

45 papers

NM_017617.5

p.L1600P

c.4799T>C

Surrounding Variants

1 paper

NM_017617.5

p.R1586_L1600ins5

c.4757_4798dup42

19 papers

NM_017617.5

p.L1600Q

c.4799T>A

1 paper

NM_017617.5

p.L1596_L1600ins1

c.4788_4799dup12

1 paper

NM_017617.5

p.V1599_L1600insFs

c.4797_4798insG

1 paper

NM_017617.5

p.V1599fs

c.4795_4796fs

1 paper

NM_017617.5

p.S1588_L1600del13

c.4762_4799del39

1 paper

NM_017617.5

p.V1599delins

c.4796delinsATTT

1 paper

NM_017617.5

p.V1599A

c.4796T>C

2 papers

NM_017617.5

p.H1601L

c.4802A>T

1 paper

NM_017617.5

p.H1601R

c.4802A>G

2 papers

NM_017617.5

p.H1601P

c.4802A>C

8 papers

NM_017617.5

p.V1599M

c.4795G>A