Varaico: Literature-Extracted Genetic Variants

SP140

93 papers

RefSeq Summary

This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/...

Pfam Domains

HSRaa 38–136UCSCHSR domain

SANDaa 584–660UCSCSAND domain

PHDaa 693–733UCSCPHD-finger

Bromodomainaa 767–839UCSCBromodomain

Gene Aliases

HGNC Name

SP140 nuclear body protein

HGNC Alias Symbols

LYSP100-B; LYSP100-A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007237.5

p.L33R

c.98T>G

Surrounding Variants

2 papers

NM_007237.5

p.L33M

c.97C>A

1 paper

NM_007237.5

p.A54S

c.160G>T

2 papers

NM_007237.5

p.R68*

c.202C>T

1 paper

NM_007237.5

p.E75K

c.223G>A

1 paper

NM_007237.5

p.E75*

c.223G>T

1 paper

NM_007237.5

p.Y78H

c.232T>C

1 paper

NM_007237.5

p.E79_H80Splc

c.238-1G>A

1 paper

NM_007237.5

p.R86T

c.257G>C

1 paper

NM_007237.5

p.V89I

c.265G>A

1 paper

NM_007237.5

p.S109L

c.326C>T

1 paper

NM_007237.5

p.N119H

c.355A>C

1 paper

NM_007237.5

p.E128K

c.382G>A