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.N1682K

c.5046C>A

Surrounding Variants

2 papers

NM_017617.5

p.N1682K

c.5046C>G

4 papers

NM_017617.5

p.R1683W

c.5047C>T

1 paper

NM_017617.5

p.N1682S

c.5045A>G

1 paper

NM_017617.5

p.R1683Q

c.5048G>A

1 paper

NM_017617.5

p.N1682D

c.5044A>G

1 paper

NM_017617.5

p.Q1684_C1685insCC

c.5050_5054ins6

2 papers

NM_017617.5

p.D1681G

c.5042A>G

1 paper

NM_017617.5

p.D1681H

c.5041G>C

1 paper

NM_017617.5

p.D1681N

c.5041G>A

1 paper

NM_017617.5

p.Q1684R

c.5051A>G

1 paper

NM_017617.5

p.I1680_D1681insFs

c.5040_5041ins22

2 papers

NM_017617.5

p.I1680I

c.5040T>C