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.S2538R

c.7612A>C

Surrounding Variants

1 paper

NM_017617.5

p.S2537delFs

c.7611delG

1 paper

NM_017617.5

p.S2538I

c.7613G>T

1 paper

NM_017617.5

p.S2537fs

c.7609_7610fs

1 paper

NM_017617.5

p.S2537F

c.7610C>T

2 papers

NM_017617.5

p.S2537C

c.7610C>G

1 paper

NM_017617.5

p.S2538R

c.7614C>G

1 paper

NM_017617.5

p.S2538R

c.7614C>A

1 paper

NM_017617.5

p.P2539S

c.7615C>T

1 paper

NM_017617.5

p.P2539fs

c.7615_7616fs

1 paper

NM_017617.5

p.V2536A

c.7607T>C

1 paper

NM_017617.5

p.P2539delFs

c.7616delG

9 papers

NM_017617.5

p.V2536I

c.7606G>A