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.C339W

c.1017T>G

Surrounding Variants

1 paper

NM_017617.5

p.C339fs

c.1015_1016fs

1 paper

NM_017617.5

p.C339*

c.1017T>A

1 paper

NM_017617.5

p.C339F

c.1016G>T

3 papers

NM_017617.5

p.C339S

c.1016G>C

1 paper

NM_017617.5

p.C339Y

c.1016G>A

1 paper

NM_017617.5

p.A340fs

c.1018_1019fs

1 paper

NM_017617.5

p.C339R

c.1015T>C

3 papers

NM_017617.5

p.C339S

c.1015T>A

1 paper

NM_017617.5

p.D338del1

c.1012_1013delGTC

1 paper

NM_017617.5

p.D337_D338del2

c.1009_1013del6

1 paper

NM_017617.5

p.A340V

c.1019C>T

1 paper

NM_017617.5

p.C339_A340delFs

c.1017_1018delCA