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

3 papers

NM_017617.5

p.T2511A

c.7531A>G

Surrounding Variants

1 paper

NM_017617.5

p.T2511fs

c.7531_7532fs

2 papers

NM_017617.5

p.T2511P

c.7531A>C

2 papers

NM_017617.5

p.T2511I

c.7532C>T

1 paper

NM_017617.5

p.L2510fs

c.7528_7529fs

2 papers

NM_017617.5

p.L2510P

c.7529T>C

1 paper

NM_017617.5

p.Q2501_L2510delFs

c.7503_7528del26

1 paper

NM_017617.5

p.P2512fs

c.7534_7535fs

4 papers

NM_017617.5

p.L2510F

c.7528C>T

1 paper

NM_017617.5

p.P2512A

c.7534C>G

1 paper

NM_017617.5

p.P2512T

c.7534C>A

9 papers

NM_017617.5

p.P2512L

c.7535C>T

1 paper

NM_017617.5

p.P2512R

c.7535C>G