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

48 papers

NM_017617.5

p.L1678P

c.5033T>C

Surrounding Variants

12 papers

NM_017617.5

p.L1678Q

c.5033T>A

1 paper

NM_017617.5

p.L1678L

c.5034G>T

1 paper

NM_017617.5

p.L1678L

c.5034G>A

6 papers

NM_017617.5

p.E1679*

c.5035G>T

1 paper

NM_017617.5

p.E1679K

c.5035G>A

4 papers

NM_017617.5

p.V1676del1

c.5026_5027delGAC

1 paper

NM_017617.5

p.E1679D

c.5037G>C

1 paper

NM_017617.5

p.V1676fs

c.5026_5027fs

2 papers

NM_017617.5

p.I1680S

c.5039T>G

6 papers

NM_017617.5

p.I1680T

c.5039T>C

1 paper

NM_017617.5

p.V1676A

c.5027T>C

16 papers

NM_017617.5

p.I1680N

c.5039T>A