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.D153G

c.458A>G

Surrounding Variants

1 paper

NM_007237.5

p.N149K

c.447C>A

1 paper

NM_007237.5

p.N149K

c.447C>G

1 paper

NM_007237.5

p.L158V

c.472C>G

1 paper

NM_007237.5

p.N167fs

c.499_500fs

1 paper

NM_007237.5

p.N167delFs

c.500_501delAT

1 paper

NM_007237.5

p.H170R

c.509A>G

2 papers

NM_007237.5

p.D174N

c.520G>A

1 paper

NM_007237.5

p.P178L

c.533C>T

1 paper

NM_007237.5

p.L182W

c.545T>G

1 paper

NM_007237.5

p.P186R

c.557C>G

1 paper

NM_007237.5

p.P190fs

c.568_569fs

1 paper

NM_007237.5

p.E128K

c.382G>A