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.S356A

c.1066T>G

Surrounding Variants

1 paper

NM_017617.5

p.S356P

c.1066T>C

1 paper

NM_017617.5

p.S356fs

c.1066_1067fs

7 papers

NM_017617.5

p.S356F

c.1067C>T

1 paper

NM_017617.5

p.S356C

c.1067C>G

1 paper

NM_017617.5

p.S356Y

c.1067C>A

2 papers

NM_017617.5

p.A355V

c.1064C>T

1 paper

NM_017617.5

p.S356S

c.1068C>G

1 paper

NM_017617.5

p.A355D

c.1064C>A

1 paper

NM_017617.5

p.A355P

c.1063G>C

4 papers

NM_017617.5

p.A355T

c.1063G>A

1 paper

NM_017617.5

p.F357C

c.1070T>G

9 papers

NM_017617.5

p.F357S

c.1070T>C