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.L1585ins1

c.4753_4754insAGC

Surrounding Variants

2 papers

NM_017617.5

p.L1585delins

c.4753delinsGGTCCTGAGC

1 paper

NM_017617.5

p.L1585ins2

c.4753_4754ins6

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

1 paper

NM_017617.5

p.Q1584H

c.4752G>T

1 paper

NM_017617.5

p.Q1584H

c.4752G>C

1 paper

NM_017617.5

p.Q1584ins4

c.4751_4752ins12

4 papers

NM_017617.5

p.R1586C

c.4756C>T

3 papers

NM_017617.5

p.Q1584*

c.4750C>T