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.D516Splc

c.1546+1G>A

Surrounding Variants

1 paper

NM_001080391.2

p.R500*

c.1498A>T

1 paper

NM_001080391.2

p.N485del1

c.1453_1454delAAT

1 paper

NM_001080391.2

p.S530G

c.1588A>G

1 paper

NM_001080391.2

p.L472_R474del3

c.1414_1421del9

2 papers

NM_001080391.2

p.S471P

c.1411T>C

1 paper

NM_001080391.2

p.S470L

c.1409C>T

1 paper

NM_001080391.2

p.C468*

c.1404C>A

1 paper

NM_001080391.2

p.R449Splc

c.1345+1G>A

2 papers

NM_001080391.2

p.K447E

c.1339A>G

1 paper

NM_001080391.2

p.I443M

c.1329A>G

1 paper

NM_001080391.2

p.R436K

c.1307G>A

5 papers

NM_001080391.2

p.M433V

c.1297A>G