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.G2535delFs

c.7604delC

Surrounding Variants

1 paper

NM_017617.5

p.G2535G

c.7605C>T

1 paper

NM_017617.5

p.G2535fs

c.7603_7604fs

9 papers

NM_017617.5

p.V2536I

c.7606G>A

3 papers

NM_017617.5

p.G2535D

c.7604G>A

1 paper

NM_017617.5

p.V2536A

c.7607T>C

2 papers

NM_017617.5

p.E2534D

c.7602G>T

1 paper

NM_017617.5

p.E2534fs

c.7600_7601fs

2 papers

NM_017617.5

p.E2534D

c.7602G>C

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.S2537F

c.7610C>T

2 papers

NM_017617.5

p.S2537C

c.7610C>G