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.A4230T

c.12688G>A

Surrounding Variants

1 paper

NM_015057.5

p.D4252D

c.12756T>C

1 paper

NM_015057.5

p.K4256fs

c.12766_12767fs

1 paper

NM_015057.5

p.Q4255delFs

c.12764delT

1 paper

NM_015057.5

p.E4268K

c.12802G>A

1 paper

NM_015057.5

p.F4303I

c.12907T>A

1 paper

NM_015057.5

p.E4308_A4309del1

c.12923_12925delCTT

1 paper

NM_015057.5

p.E4308_A4309del2

c.12922_12926del6

1 paper

NM_015057.5

p.D4313H

c.12937G>C

1 paper

NM_015057.5

p.S4215F

c.12644C>T

1 paper

NM_015057.5

p.R4193*

c.12577C>T

1 paper

NM_015057.5

p.A4369S

c.13105G>T

1 paper

NM_015057.5

p.R4155*

c.12463C>T