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.D1546A

c.4637A>C

Surrounding Variants

1 paper

NM_017617.5

p.D1546H

c.4636G>C

3 papers

NM_017617.5

p.Q1547*

c.4639C>T

1 paper

NM_017617.5

p.Q1547K

c.4639C>A

1 paper

NM_017617.5

p.C1545S

c.4634G>C

1 paper

NM_017617.5

p.H1544_C1545delFs

c.4632_4633delAG

1 paper

NM_017617.5

p.C1545R

c.4633T>C

1 paper

NM_017617.5

p.H1544delFs

c.4631_4632delGT

1 paper

NM_017617.5

p.Q1547H

c.4641G>T

1 paper

NM_017617.5

p.Q1547H

c.4641G>C

1 paper

NM_017617.5

p.D1538_Q1547del10

c.4612_4640del30

1 paper

NM_017617.5

p.H1544P

c.4631A>C

1 paper

NM_017617.5

p.H1544fs

c.4630_4631fs