Varaico: Literature-Extracted Genetic Variants

NOTCH2

1,480 papers

RefSeq Summary

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal ...

Pfam Domains

EGFaa 68–100UCSCEGF-like domain

EGFaa 109–141UCSCEGF-like domain

EGFaa 148–178UCSCEGF-like domain

EGF_CAaa 182–221UCSCCalcium-binding EGF domain

hEGFaa 269–290UCSCHuman growth factor-like EGF

EGF_CAaa 298–338UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 2

HGNC Previous Names

Notch (Drosophila) homolog 2; Notch homolog 2 (Drosophila); notch 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024408.4

p.P34_N37del4

c.100_110del12

Surrounding Variants

20 papers

NM_024408.4

p.E38K

c.112G>A

1 paper

NM_024408.4

p.N37S

c.110A>G

1 paper

NM_024408.4

p.N37D

c.109A>G

1 paper

NM_024408.4

p.G39E

c.116G>A

1 paper

NM_024408.4

p.M40V

c.118A>G

1 paper

NM_024408.4

p.M40I

c.120G>T

1 paper

NM_024408.4

p.M40I

c.120G>C

1 paper

NM_024408.4

p.M40I

c.120G>A

1 paper

NM_024408.4

p.P34_C35delFs

c.100_103del4

1 paper

NM_024408.4

p.C41S

c.121T>A

1 paper

NM_024408.4

p.C41Fs

c.121delinsTTFs

1 paper

NM_024408.4

p.C41S

c.122G>C