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.R448G

c.1342C>G

Surrounding Variants

18 papers

NM_017617.5

p.R448*

c.1342C>T

1 paper

NM_017617.5

p.R448P

c.1343G>C

14 papers

NM_017617.5

p.R448Q

c.1343G>A

1 paper

NM_017617.5

p.T445_R448del0

c.1334_1342del9

1 paper

NM_017617.5

p.P447P

c.1341C>A

2 papers

NM_017617.5

p.P447L

c.1340C>T

1 paper

NM_017617.5

p.R448fs

c.1342_1343fs

2 papers

NM_017617.5

p.C449G

c.1345T>G

10 papers

NM_017617.5

p.C449R

c.1345T>C

3 papers

NM_017617.5

p.C449S

c.1345T>A

1 paper

NM_017617.5

p.P447S

c.1339C>T

1 paper

NM_017617.5

p.C449F

c.1346G>T