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.Q2480*

c.7438C>T

Surrounding Variants

1 paper

NM_017617.5

p.A2479A

c.7437C>T

1 paper

NM_017617.5

p.A2478_Q2480delFs

c.7432_7438del7

1 paper

NM_017617.5

p.Q2480fs

c.7438_7439fs

1 paper

NM_017617.5

p.A2479D

c.7436C>A

1 paper

NM_017617.5

p.F2481fs

c.7441_7442fs

1 paper

NM_017617.5

p.A2478insFs

c.7432_7433dupGC

3 papers

NM_017617.5

p.A2478fs

c.7432_7433fs

3 papers

NM_017617.5

p.F2481fs

c.7441_7442fs

1 paper

NM_017617.5

p.F2481delFs

c.7442delA

2 papers

NM_017617.5

p.L2482fs

c.7444_7445fs

1 paper

NM_017617.5

p.T2477delFs

c.7431delG

1 paper

NM_017617.5

p.A2478fs

c.7432_7433fs