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.A343G

c.1028C>G

Surrounding Variants

1 paper

NM_017617.5

p.A343S

c.1027G>T

1 paper

NM_017617.5

p.A343P

c.1027G>C

1 paper

NM_017617.5

p.A343fs

c.1027_1028fs

2 papers

NM_017617.5

p.C344G

c.1030T>G

4 papers

NM_017617.5

p.C344S

c.1030T>A

1 paper

NM_017617.5

p.A343del1

c.1027_1028delGGC

1 paper

NM_017617.5

p.A342A

c.1026C>T

1 paper

NM_017617.5

p.A342A

c.1026C>G

4 papers

NM_017617.5

p.C344S

c.1031G>C

1 paper

NM_017617.5

p.A342V

c.1025C>T

2 papers

NM_017617.5

p.A342T

c.1024G>A

2 papers

NM_017617.5

p.C344fs

c.1030_1031fs