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.W2532L

c.7595G>T

Surrounding Variants

1 paper

NM_017617.5

p.W2532*

c.7595G>A

1 paper

NM_017617.5

p.W2532*

c.7596G>A

2 papers

NM_017617.5

p.D2531fs

c.7591_7592fs

1 paper

NM_017617.5

p.S2533F

c.7598C>T

1 paper

NM_017617.5

p.S2530insFs

c.7590dupC

1 paper

NM_017617.5

p.S2533fs

c.7597_7598fs

2 papers

NM_017617.5

p.E2534K

c.7600G>A

1 paper

NM_017617.5

p.S2533delFs

c.7599delG

1 paper

NM_017617.5

p.S2530F

c.7589C>T

1 paper

NM_017617.5

p.S2530P

c.7588T>C

2 papers

NM_017617.5

p.E2534D

c.7602G>T

1 paper

NM_017617.5

p.E2534fs

c.7600_7601fs