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.H2454R

c.7361A>G

Surrounding Variants

1 paper

NM_017617.5

p.H2454insFs

c.7361_7362insTC

1 paper

NM_017617.5

p.V2453fs

c.7357_7358fs

1 paper

NM_017617.5

p.V2453V

c.7359G>A

8 papers

NM_017617.5

p.T2455A

c.7363A>G

1 paper

NM_017617.5

p.T2455N

c.7364C>A

1 paper

NM_017617.5

p.T2455fs

c.7363_7364fs

1 paper

NM_017617.5

p.T2455delFs

c.7363_7364delGT

1 paper

NM_017617.5

p.V2453L

c.7357G>T

2 papers

NM_017617.5

p.V2453L

c.7357G>C

1 paper

NM_017617.5

p.V2453M

c.7357G>A

1 paper

NM_017617.5

p.V2453fs

c.7357_7358fs

1 paper

NM_017617.5

p.I2456fs

c.7366_7367fs