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

2 papers

NM_017617.5

p.E1567*

c.4699G>T

Surrounding Variants

5 papers

NM_017617.5

p.E1567K

c.4699G>A

1 paper

NM_017617.5

p.E1567fs

c.4699_4700fs

1 paper

NM_017617.5

p.P1566A

c.4696C>G

1 paper

NM_017617.5

p.R1568G

c.4702A>G

1 paper

NM_017617.5

p.R1568M

c.4703G>T

1 paper

NM_017617.5

p.R1568T

c.4703G>C

1 paper

NM_017617.5

p.V1565_P1566insFs

c.4695_4696ins11

2 papers

NM_017617.5

p.R1568S

c.4704G>T

2 papers

NM_017617.5

p.R1568S

c.4704G>C

1 paper

NM_017617.5

p.V1565I

c.4693G>A

1 paper

NM_017617.5

p.L1569L

c.4705C>T

1 paper

NM_017617.5

p.L1569P

c.4706T>C