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.E1719K

c.5155G>A

Surrounding Variants

5 papers

NM_017617.5

p.E1719*

c.5155G>T

1 paper

NM_017617.5

p.I1718M

c.5154C>G

1 paper

NM_017617.5

p.I1718_E1719ins1

c.5154_5155insCGC

11 papers

NM_017617.5

p.I1718T

c.5153T>C

1 paper

NM_017617.5

p.I1718_E1719insA

c.5152_5156ins3

1 paper

NM_017617.5

p.A1720A

c.5160C>G

1 paper

NM_017617.5

p.V1721L

c.5161G>T

1 paper

NM_017617.5

p.V1721L

c.5161G>C

7 papers

NM_017617.5

p.V1721M

c.5161G>A

1 paper

NM_017617.5

p.K1717E

c.5149A>G

2 papers

NM_017617.5

p.Y1716_K1717ins2

c.5148_5149ins6

5 papers

NM_017617.5

p.V1721G

c.5162T>G