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.E905D

c.2715G>C

Surrounding Variants

1 paper

NM_017617.5

p.E905D

c.2715G>T

1 paper

NM_017617.5

p.E905*

c.2713G>T

2 papers

NM_017617.5

p.E905K

c.2713G>A

1 paper

NM_017617.5

p.C904W

c.2712C>G

1 paper

NM_017617.5

p.C904*

c.2712C>A

1 paper

NM_017617.5

p.D907N

c.2719G>A

1 paper

NM_017617.5

p.C904R

c.2710T>C

1 paper

NM_017617.5

p.N903I

c.2708A>T

1 paper

NM_017617.5

p.N903S

c.2708A>G

1 paper

NM_017617.5

p.N903Y

c.2707A>T

1 paper

NM_017617.5

p.I908M

c.2724C>G

7 papers

NM_017617.5

p.R902H

c.2705G>A