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

3 papers

NM_017617.5

p.C440S

c.1319G>C

Surrounding Variants

4 papers

NM_017617.5

p.C440F

c.1319G>T

5 papers

NM_017617.5

p.C440Y

c.1319G>A

4 papers

NM_017617.5

p.C440G

c.1318T>G

2 papers

NM_017617.5

p.C440W

c.1320T>G

7 papers

NM_017617.5

p.C440R

c.1318T>C

3 papers

NM_017617.5

p.C440S

c.1318T>A

1 paper

NM_017617.5

p.Q439H

c.1317G>T

1 paper

NM_017617.5

p.Q439fs

c.1315_1316fs

1 paper

NM_017617.5

p.Q439H

c.1317G>C

1 paper

NM_017617.5

p.L441L

c.1321C>T

1 paper

NM_017617.5

p.L441R

c.1322T>G

1 paper

NM_017617.5

p.Q439P

c.1316A>C