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

5 papers

NM_001080391.2

p.M826T

c.2477T>C

Surrounding Variants

1 paper

NM_001080391.2

p.G832W

c.2494G>T

1 paper

NM_001080391.2

p.R838C

c.2512C>T

5 papers

NM_001080391.2

p.A796T

c.2386G>A

1 paper

NM_001080391.2

p.C793S

c.2378G>C

1 paper

NM_001080391.2

p.C793S

c.2377T>A

1 paper

NM_001080391.2

p.L777_K778Splc

c.2332-1G>C

1 paper

NM_001080391.2

p.F853S

c.2558T>C

1 paper

NM_001080391.2

p.I863M

c.2589C>G

1 paper

NM_001080391.2

p.L772Q

c.2315T>A

1 paper

NM_001080391.2

p.L767L

c.2301G>A

1 paper

NM_001080391.2

p.V766F

c.2296G>T

1 paper

NM_001080391.2

p.H761insFs

c.2282dupA