Varaico: Literature-Extracted Genetic Variants

MYCBP2

179 papers

RefSeq Summary

This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in ...

Pfam Domains

RCC1_2aa 683–712UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 958–1006UCSCRegulator of chromosome condensation (RCC1) repeat

PHRaa 1235–1385UCSCPHR domain

PHRaa 1726–1883UCSCPHR domain

ANAPC10aa 3723–3889UCSCAnaphase-promoting complex, subunit 10 (APC10)

Gene Aliases

HGNC Name

MYC binding protein 2

HGNC Alias Symbols

KIAA0916; FLJ10106; PHR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015057.5

p.K4549_A4550Splc

c.13647+1G>C

Surrounding Variants

1 paper

NM_015057.5

p.D4489V

c.13466A>T

1 paper

NM_015057.5

p.F4470C

c.13409T>G

2 papers

NM_015057.5

p.T4469K

c.13406C>A

1 paper

NM_015057.5

p.V4458I

c.13372G>A

1 paper

NM_015057.5

p.H4451P

c.13352A>C

1 paper

NM_015057.5

p.M4429I

c.13287G>T

1 paper

NM_015057.5

p.M4429I

c.13287G>C

1 paper

NM_015057.5

p.M4429I

c.13287G>A

1 paper

NM_015057.5

p.G4398G

c.13194G>A

1 paper

NM_015057.5

p.C4397Y

c.13190G>A

1 paper

NM_015057.5

p.C4387F

c.13160G>T

2 papers

NM_015057.5

p.R4557C

c.13669C>T