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.C645C

c.1935C>T

Surrounding Variants

1 paper

NM_015057.5

p.S650R

c.1948A>C

1 paper

NM_015057.5

p.S650R

c.1950T>G

1 paper

NM_015057.5

p.S650R

c.1950T>A

1 paper

NM_015057.5

p.D614_S617del0

c.1842_1850del9

1 paper

NM_015057.5

p.S617*

c.1850C>G

1 paper

NM_015057.5

p.S617*

c.1850C>A

1 paper

NM_015057.5

p.F604L

c.1812C>G

1 paper

NM_015057.5

p.F604L

c.1812C>A

1 paper

NM_015057.5

p.F604L

c.1810T>C

1 paper

NM_015057.5

p.I582M

c.1746A>G

1 paper

NM_015057.5

p.I561V

c.1681A>G

1 paper

NM_015057.5

p.Y551F

c.1652A>T