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.D2518D

c.7554C>T

Surrounding Variants

4 papers

NM_017617.5

p.Q2519*

c.7555C>T

1 paper

NM_017617.5

p.Q2519K

c.7555C>A

1 paper

NM_017617.5

p.P2512_Q2519del0

c.7535_7555del21

1 paper

NM_017617.5

p.P2517fs

c.7549_7550fs

1 paper

NM_017617.5

p.P2517delFs

c.7550delG

1 paper

NM_017617.5

p.P2517L

c.7550C>T

1 paper

NM_017617.5

p.P2517R

c.7550C>G

4 papers

NM_017617.5

p.W2520*

c.7559G>A

1 paper

NM_017617.5

p.W2520C

c.7560G>C

4 papers

NM_017617.5

p.W2520*

c.7560G>A

2 papers

NM_017617.5

p.S2516F

c.7547C>T

1 paper

NM_017617.5

p.S2516P

c.7546T>C