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.T2097I

c.6290C>T

Surrounding Variants

3 papers

NM_024408.4

p.M2099V

c.6295A>G

1 paper

NM_024408.4

p.K2095R

c.6284A>G

1 paper

NM_024408.4

p.L2094L

c.6282G>A

1 paper

NM_024408.4

p.S2093I

c.6278G>T

2 papers

NM_024408.4

p.K2102*

c.6304A>T

2 papers

NM_024408.4

p.F2091fs

c.6271_6272fs

10 papers

NM_024408.4

p.F2091delFs

c.6272delA

2 papers

NM_024408.4

p.F2091S

c.6272T>C

1 paper

NM_024408.4

p.F2091_L2092ins6

c.6271_6275ins18

4 papers

NM_024408.4

p.R2105W

c.6313C>T

1 paper

NM_024408.4

p.R2105L

c.6314G>T

1 paper

NM_024408.4

p.R2105Q

c.6314G>A