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

3 papers

NM_017617.5

p.Q1584*

c.4750C>T

Surrounding Variants

1 paper

NM_017617.5

p.E1583ins0

c.4747_4749dupGAG

1 paper

NM_017617.5

p.Q1584ins4

c.4751_4752ins12

1 paper

NM_017617.5

p.Q1584H

c.4752G>T

1 paper

NM_017617.5

p.Q1584H

c.4752G>C

4 papers

NM_017617.5

p.E1583*

c.4747G>T

3 papers

NM_017617.5

p.P1582del1

c.4744_4745delCGG

1 paper

NM_017617.5

p.P1581_P1582del0

c.4741_4746del6

1 paper

NM_017617.5

p.L1579_P1582del4

c.4735_4745del12

1 paper

NM_017617.5

p.E1583fs

c.4747_4748fs

2 papers

NM_017617.5

p.L1585delins

c.4753delinsGGTCCTGAGC

1 paper

NM_017617.5

p.L1585ins1

c.4753_4754insAGC

1 paper

NM_017617.5

p.L1585ins2

c.4753_4754ins6