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

2 papers

NM_001080391.2

p.I592T

c.1775T>C

Surrounding Variants

1 paper

NM_001080391.2

p.E596*

c.1786G>T

1 paper

NM_001080391.2

p.G589Splc

c.1766-4G>T

1 paper

NM_001080391.2

p.K635*

c.1903A>T

1 paper

NM_001080391.2

p.T639A

c.1915A>G

1 paper

NM_001080391.2

p.R660H

c.1979G>A

1 paper

NM_001080391.2

p.Y664H

c.1990T>C

1 paper

NM_001080391.2

p.K567*

c.1699A>T

1 paper

NM_001080391.2

p.R554T

c.1661G>C

2 papers

NM_001080391.2

p.I686T

c.2057T>C

1 paper

NM_001080391.2

p.D696A

c.2087A>C

1 paper

NM_001080391.2

p.V543I

c.1627G>A

1 paper

NM_001080391.2

p.R537K

c.1610G>A