Varaico: Literature-Extracted Genetic Variants

SP100

94 papers

RefSeq Summary

This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered...

Pfam Domains

HSRaa 49–147UCSCHSR domain

SANDaa 599–675UCSCSAND domain

HMG_box_2aa 691–753UCSCHMG-box domain

HMG_boxaa 769–837UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SP100 nuclear antigen

HGNC Previous Name

nuclear antigen Sp100

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001080391.2

p.I17V

c.49A>G

Surrounding Variants

1 paper

NM_001080391.2

p.M24L

c.70A>C

1 paper

NM_001080391.2

p.H32H

c.96C>T