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.L356F

c.1068A>T

Surrounding Variants

2 papers

NM_007237.5

p.L356F

c.1068A>C

1 paper

NM_007237.5

p.L378_E386delFs

c.1132_1156del25

1 paper

NM_007237.5

p.S379N

c.1136G>A

1 paper

NM_007237.5

p.R411C

c.1231C>T

1 paper

NM_007237.5

p.V414Splc

c.1240+11G>C

1 paper

NM_007237.5

p.V414Splc

c.1240+16G>C

1 paper

NM_007237.5

p.G351E

c.1052G>A

1 paper

NM_007237.5

p.R349K

c.1046G>A

1 paper

NM_007237.5

p.S344Y

c.1031C>A

1 paper

NM_007237.5

p.Q341H

c.1023G>C

1 paper

NM_007237.5

p.Q341H

c.1023G>T

1 paper

NM_007237.5

p.G327R

c.979G>C