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.I323K

c.968T>A

Surrounding Variants

1 paper

NM_001080391.2

p.I324K

c.971T>A

1 paper

NM_001080391.2

p.V325A

c.974T>C

1 paper

NM_001080391.2

p.A320S

c.958G>T

1 paper

NM_001080391.2

p.C309R

c.925T>C

1 paper

NM_001080391.2

p.K298R

c.893A>G

5 papers

NM_001080391.2

p.K297R

c.890A>G

3 papers

NM_001080391.2

p.R292Q

c.875G>A

1 paper

NM_001080391.2

p.V291E

c.872T>A

1 paper

NM_001080391.2

p.C289G

c.865T>G

1 paper

NM_001080391.2

p.E332K

c.994G>A

1 paper

NM_001080391.2

p.V337A

c.1010T>C

1 paper

NM_001080391.2

p.N363N

c.1089T>C