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.K586insFs

c.1756_1757dupAA

Surrounding Variants

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.R576*

c.1726A>T

1 paper

NM_007237.5

p.K604N

c.1812G>C

1 paper

NM_007237.5

p.K604N

c.1812G>T

1 paper

NM_007237.5

p.Q608K

c.1822C>A

1 paper

NM_007237.5

p.G609Splc

c.1825+2T>C

1 paper

NM_007237.5

p.E618*

c.1852G>T

1 paper

NM_007237.5

p.W622L

c.1865G>T

1 paper

NM_007237.5

p.T626M

c.1877C>T

1 paper

NM_007237.5

p.K638fs

c.1912_1913fs

1 paper

NM_007237.5

p.W649G

c.1945T>G