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.R2990Q

c.8969G>A

Surrounding Variants

1 paper

NM_015057.5

p.S2959_G2963delFs

c.8877_8887del11

1 paper

NM_015057.5

p.S2959fs

c.8875_8876fs

1 paper

NM_015057.5

p.Q3021K

c.9061C>A

1 paper

NM_015057.5

p.K2958N

c.8874G>T

1 paper

NM_015057.5

p.K2958N

c.8874G>C

1 paper

NM_015057.5

p.S3024C

c.9071C>G

1 paper

NM_015057.5

p.D2907H

c.8719G>C

1 paper

NM_015057.5

p.R2895L

c.8684G>T

1 paper

NM_015057.5

p.D2879Y

c.8635G>T

1 paper

NM_015057.5

p.H3130H

c.9390T>C

1 paper

NM_015057.5

p.D3169_I3170delFs

c.9507_9508delTG

1 paper

NM_015057.5

p.N2791S

c.8372A>G