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.E534*

c.1600G>T

Surrounding Variants

1 paper

NM_007237.5

p.K535K

c.1605G>A

1 paper

NM_007237.5

p.A537V

c.1610C>T

1 paper

NM_007237.5

p.L544F

c.1630C>T

1 paper

NM_007237.5

p.G549R

c.1645G>A

1 paper

NM_007237.5

p.G549R

c.1645G>C

4 papers

NM_007237.5

p.E516K

c.1546G>A

1 paper

NM_007237.5

p.R511*

c.1531A>T

1 paper

NM_007237.5

p.R576*

c.1726A>T

1 paper

NM_007237.5

p.K586insFs

c.1756_1757dupAA

1 paper

NM_007237.5

p.A587fs

c.1759_1760fs

1 paper

NM_007237.5

p.L589L

c.1767G>A

1 paper

NM_007237.5

p.K604N

c.1812G>C