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

3 papers

NM_017617.5

p.L1574Q

c.4721T>A

Surrounding Variants

34 papers

NM_017617.5

p.L1574P

c.4721T>C

2 papers

NM_017617.5

p.L1574_V1575ins1

c.4722_4723insAAA

3 papers

NM_017617.5

p.L1574fs

c.4720_4721fs

3 papers

NM_017617.5

p.T1573insFs

c.4719dupG

10 papers

NM_017617.5

p.V1575L

c.4723G>T

1 paper

NM_017617.5

p.T1573T

c.4719G>T

10 papers

NM_017617.5

p.V1575L

c.4723G>C

1 paper

NM_017617.5

p.V1575M

c.4723G>A

1 paper

NM_017617.5

p.T1573delins

c.4718_4719delinsAGGGC

1 paper

NM_017617.5

p.A1570_T1573delFs

c.4709_4718del10

16 papers

NM_017617.5

p.V1575A

c.4724T>C

2 papers

NM_017617.5

p.T1573M

c.4718C>T