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.F1592del1

c.4774_4776delGAA

Surrounding Variants

1 paper

NM_017617.5

p.L1593M

c.4777C>A

27 papers

NM_017617.5

p.L1593P

c.4778T>C

1 paper

NM_017617.5

p.L1593Q

c.4778T>A

3 papers

NM_017617.5

p.F1592L

c.4776C>G

1 paper

NM_017617.5

p.F1592ins1

c.4775_4776insTTC

2 papers

NM_017617.5

p.F1592delins

c.4776delinsGGGC

1 paper

NM_017617.5

p.F1592_L1593ins2

c.4776_4777ins6

1 paper

NM_017617.5

p.F1592fs

c.4774_4775fs

1 paper

NM_017617.5

p.F1592_L1593ins1

c.4776_4777insGAA

2 papers

NM_017617.5

p.F1592L

c.4776C>A

1 paper

NM_017617.5

p.F1592ins1

c.4775_4776insGAC

1 paper

NM_017617.5

p.F1592ins2

c.4775_4776ins6