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.V3299G

c.9896T>G

Surrounding Variants

1 paper

NM_015057.5

p.R3302L

c.9905G>T

1 paper

NM_015057.5

p.R3309C

c.9925C>T

1 paper

NM_015057.5

p.R3265Q

c.9794G>A

1 paper

NM_015057.5

p.G3264G

c.9792C>T

1 paper

NM_015057.5

p.R3400K

c.10199G>A

1 paper

NM_015057.5

p.R3218K

c.9653G>A

1 paper

NM_015057.5

p.C3198_E3199delFs

c.9594_9595delCA

1 paper

NM_015057.5

p.D3169_I3170delFs

c.9507_9508delTG

1 paper

NM_015057.5

p.H3130H

c.9390T>C

1 paper

NM_015057.5

p.S3024C

c.9071C>G

1 paper

NM_015057.5

p.Q3021K

c.9061C>A

1 paper

NM_015057.5

p.R2990Q

c.8969G>A