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

2 papers

NM_007237.5

p.C756R

c.2266T>C

Surrounding Variants

1 paper

NM_007237.5

p.G740E

c.2219G>A

1 paper

NM_007237.5

p.L768*

c.2303T>A

1 paper

NM_007237.5

p.S777S

c.2331C>G

1 paper

NM_007237.5

p.I782N

c.2345T>A

1 paper

NM_007237.5

p.H811Q

c.2433C>A

1 paper

NM_007237.5

p.H811Q

c.2433C>G

1 paper

NM_007237.5

p.P814L

c.2441C>T

1 paper

NM_007237.5

p.Q828H

c.2484G>C

1 paper

NM_007237.5

p.Q828H

c.2484G>T

1 paper

NM_007237.5

p.N829S

c.2486A>G

1 paper

NM_007237.5

p.D706N

c.2116G>A

1 paper

NM_007237.5

p.D698fs

c.2092_2093fs