Varaico: Literature-Extracted Genetic Variants

SLBP

29 papers

RefSeq Summary

This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucl...

Pfam Domains

SLBP_RNA_bindaa 130–199UCSCHistone RNA hairpin-binding protein RNA-binding domain

Gene Aliases

HGNC Name

stem-loop histone mRNA binding protein

HGNC Previous Names

stem-loop (histone) binding protein; stem-loop binding protein

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

3 papers

NM_006527.4

p.D233N

c.697G>A

2 papers

NM_006527.4

p.K146R

c.437A>G

2 papers

NM_006527.4

p.K156R

c.467A>G

2 papers

NM_006527.4

p.T171A

c.511A>G

1 paper

NM_006527.4

p.S23P

c.67T>C

1 paper

NM_006527.4

p.S28fs

c.82_83fs

1 paper

NM_006527.4

p.D44_A45insFs

c.132_133insTT

1 paper

NM_006527.4

p.E47K

c.139G>A

1 paper

NM_006527.4

p.T61A

c.181A>G

1 paper

NM_006527.4

p.R69C

c.205C>T

1 paper

NM_006527.4

p.E83K

c.247G>A

1 paper

NM_006527.4

p.S111L

c.332C>T