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.S2471_L2472Fs

c.7413_7416delinsCTTTACCTTCTCFs

Surrounding Variants

4 papers

NM_017617.5

p.V2473I

c.7417G>A

1 paper

NM_017617.5

p.V2473insFs

c.7418_7419insGG

1 paper

NM_017617.5

p.V2473A

c.7418T>C

4 papers

NM_017617.5

p.L2472fs

c.7414_7415fs

1 paper

NM_017617.5

p.L2472insFs

c.7414_7415ins13

1 paper

NM_017617.5

p.L2472M

c.7414C>A

1 paper

NM_017617.5

p.S2471_L2472insFs

c.7413_7414ins8

1 paper

NM_017617.5

p.S2471ins3

c.7412_7413ins9

1 paper

NM_017617.5

p.S2471fs

c.7411_7412fs

1 paper

NM_017617.5

p.V2473_P2474insFs

c.7419_7420ins5

2 papers

NM_017617.5

p.V2473fs

c.7417_7418fs

2 papers

NM_017617.5

p.S2471L

c.7412C>T