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.V1605A

c.4814T>C

Surrounding Variants

1 paper

NM_017617.5

p.V1605G

c.4814T>G

2 papers

NM_017617.5

p.V1605D

c.4814T>A

1 paper

NM_017617.5

p.V1605I

c.4813G>A

6 papers

NM_017617.5

p.V1605fs

c.4813_4814fs

1 paper

NM_017617.5

p.V1605Fs

c.4814_4815delinsCCCCCCCCGAFs

1 paper

NM_017617.5

p.V1605ins2

c.4813_4814ins6

2 papers

NM_017617.5

p.F1606Fs

c.4816delinsCCTFs

1 paper

NM_017617.5

p.F1606_K1607insHYL

c.4816_4820ins9

5 papers

NM_017617.5

p.F1606L

c.4816T>C

2 papers

NM_017617.5

p.V1605delFs

c.4815delG

1 paper

NM_017617.5

p.V1604_V1605del2

c.4810_4814del6

1 paper

NM_017617.5

p.F1606fs

c.4816_4817fs