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

2 papers

NM_017617.5

p.P2445fs

c.7333_7334fs

Surrounding Variants

1 paper

NM_017617.5

p.L2446ins1

c.7336_7337insATG

1 paper

NM_017617.5

p.P2445_L2446insFs

c.7335_7336insA

1 paper

NM_017617.5

p.L2446Q

c.7337T>A

2 papers

NM_017617.5

p.V2443_L2446delFs

c.7327_7336del10

1 paper

NM_017617.5

p.Q2444_P2445insFs

c.7332_7333ins13

1 paper

NM_017617.5

p.Q2444fs

c.7330_7331fs

1 paper

NM_017617.5

p.L2446L

c.7338G>A

2 papers

NM_017617.5

p.G2447C

c.7339G>T

1 paper

NM_017617.5

p.G2447S

c.7339G>A

1 paper

NM_017617.5

p.Q2444R

c.7331A>G

1 paper

NM_017617.5

p.Q2444insFs

c.7331_7332ins8

1 paper

NM_017617.5

p.L2446_G2447insFs

c.7338_7339ins4