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.A1705A

c.5115G>A

Surrounding Variants

2 papers

NM_017617.5

p.A1705V

c.5114C>T

1 paper

NM_017617.5

p.A1705S

c.5113G>T

1 paper

NM_017617.5

p.L1706L

c.5118C>T

1 paper

NM_017617.5

p.L1706L

c.5118C>A

1 paper

NM_017617.5

p.A1707S

c.5119G>T

1 paper

NM_017617.5

p.A1707T

c.5119G>A

1 paper

NM_017617.5

p.G1704E

c.5111G>A

1 paper

NM_017617.5

p.A1707fs

c.5119_5120fs

2 papers

NM_017617.5

p.G1704*

c.5110G>T

1 paper

NM_017617.5

p.L1703L

c.5109G>A

1 paper

NM_017617.5

p.S1708L

c.5123C>T

1 paper

NM_017617.5

p.S1708W

c.5123C>G