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.Q1584_L1585delFs

c.4751_4755del5

Surrounding Variants

4 papers

NM_017617.5

p.R1586C

c.4756C>T

2 papers

NM_017617.5

p.R1586S

c.4756C>A

1 paper

NM_017617.5

p.G1572_L1585del14

c.4714_4754del42

1 paper

NM_017617.5

p.L1569_L1585del0

c.4707_4754del48

2 papers

NM_017617.5

p.R1586P

c.4757G>C

2 papers

NM_017617.5

p.R1586H

c.4757G>A

1 paper

NM_017617.5

p.L1585ins4

c.4754_4755ins12

2 papers

NM_017617.5

p.L1585R

c.4754T>G

28 papers

NM_017617.5

p.L1585P

c.4754T>C

8 papers

NM_017617.5

p.L1585Q

c.4754T>A

1 paper

NM_017617.5

p.P1582_L1585delins

c.4744_4754delinsATAGAGGC

2 papers

NM_017617.5

p.L1585delins

c.4753delinsGGTCCTGAGC