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.S2513F

c.7538C>T

Surrounding Variants

1 paper

NM_017617.5

p.S2513Y

c.7538C>A

1 paper

NM_017617.5

p.S2513A

c.7537T>G

1 paper

NM_017617.5

p.S2513T

c.7537T>A

3 papers

NM_017617.5

p.S2513fs

c.7537_7538fs

4 papers

NM_017617.5

p.S2513fs

c.7537_7538fs

61 papers

NM_017617.5

p.P2514fs

c.7540_7541fs

4 papers

NM_017617.5

p.P2512insFs

c.7535_7536insC

2 papers

NM_017617.5

p.P2512fs

c.7534_7535fs

2 papers

NM_017617.5

p.P2512delFs

c.7535delG

1 paper

NM_017617.5

p.L2510_P2512delFs

c.7529_7535del7

3 papers

NM_017617.5

p.P2508_P2512delFs

c.7524_7534del11

1 paper

NM_017617.5

p.P2514T

c.7540C>A