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.Y4032C

c.12095A>G

Surrounding Variants

2 papers

NM_015057.5

p.Q4001*

c.12001C>T

1 paper

NM_015057.5

p.A3981A

c.11943T>C

1 paper

NM_015057.5

p.R3978C

c.11932C>T

2 papers

NM_015057.5

p.H3972P

c.11915A>C

1 paper

NM_015057.5

p.T4118S

c.12353C>G

3 papers

NM_015057.5

p.T3963I

c.11888C>T

1 paper

NM_015057.5

p.V3953A

c.11858T>C

2 papers

NM_015057.5

p.L3948Q

c.11843T>A

1 paper

NM_015057.5

p.L3948V

c.11842C>G

2 papers

NM_015057.5

p.D3947V

c.11840A>T

1 paper

NM_015057.5

p.R4155*

c.12463C>T

1 paper

NM_015057.5

p.R4193*

c.12577C>T