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

1 paper

NM_015057.5

p.G2710R

c.8128G>A

Surrounding Variants

1 paper

NM_015057.5

p.G2710R

c.8128G>C

2 papers

NM_015057.5

p.R2669*

c.8005C>T

1 paper

NM_015057.5

p.S2643S

c.7929C>T

1 paper

NM_015057.5

p.Q2641*

c.7921C>T

1 paper

NM_015057.5

p.D2640H

c.7918G>C

1 paper

NM_015057.5

p.N2631S

c.7892A>G

1 paper

NM_015057.5

p.M2590T

c.7769T>C

1 paper

NM_015057.5

p.E2573K

c.7717G>A