Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KB1
Variant:p.G47_G48Splc

RPS6KB1

318 papers

RefSeq Summary

This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, c...

Pfam Domains

Pkinaseaa 91–352UCSCProtein kinase domain
Pkinase_Caa 373–413UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase B1

HGNC Previous Symbol

STK14A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003161.4
p.G47_G48Splc
c.142-1432A>G
Surrounding Variants
1 paper
NM_003161.4
p.G47_G48Splc
c.142-1437T>A
1 paper
NM_003161.4
p.G47_G48Splc
c.142-1371C>G
1 paper
NM_003161.4
p.G48delFs
c.142_143delGG
1 paper
NM_003161.4
p.G48S
c.142G>A
2 papers
NM_003161.4
p.Q49K
c.145C>A
1 paper
NM_003161.4
p.M54K
c.161T>A
2 papers
NM_003161.4
p.Y62H
c.184T>C
1 paper
NM_003161.4
p.L64F
c.190C>T
1 paper
NM_003161.4
p.E70Q
c.208G>C
1 paper
NM_003161.4
p.K71_F72insFs
c.213_214insT
1 paper
NM_003161.4
p.S75L
c.224C>T
1 paper
NM_003161.4
p.S78C
c.232A>T
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