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

1–12 of 115 variants

4 papers

NM_007237.5

p.E516K

c.1546G>A

2 papers

NM_007237.5

p.L33M

c.97C>A

2 papers

NM_007237.5

p.R68*

c.202C>T

2 papers

NM_007237.5

p.D174N

c.520G>A

2 papers

NM_007237.5

p.I230V

c.688A>G

2 papers

NM_007237.5

p.A258E

c.773C>A

2 papers

NM_007237.5

p.L356F

c.1068A>C

2 papers

NM_007237.5

p.L356F

c.1068A>T

2 papers

NM_007237.5

p.C756R

c.2266T>C

1 paper

NM_007237.5

p.Q7_G8insFs

c.21_22ins41

1 paper

NM_007237.5

p.L33R

c.98T>G

1 paper

NM_007237.5

p.A54S

c.160G>T