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.C1685*

c.5055T>A

Surrounding Variants

1 paper

NM_017617.5

p.C1685C

c.5055T>C

2 papers

NM_017617.5

p.V1686M

c.5056G>A

1 paper

NM_017617.5

p.C1685Y

c.5054G>A

1 paper

NM_017617.5

p.Q1684H

c.5052G>T

2 papers

NM_017617.5

p.Q1684fs

c.5050_5051fs

1 paper

NM_017617.5

p.Q1684H

c.5052G>C

2 papers

NM_017617.5

p.Q1687*

c.5059C>T

1 paper

NM_017617.5

p.Q1684R

c.5051A>G

1 paper

NM_017617.5

p.Q1684_C1685insCC

c.5050_5054ins6

2 papers

NM_017617.5

p.Q1687H

c.5061G>T

1 paper

NM_017617.5

p.Q1687H

c.5061G>C

1 paper

NM_017617.5

p.A1688T

c.5062G>A