Varaico: Literature-Extracted Genetic Variants

Gene:SOCS1
Variant:p.P48P

SOCS1

386 papers

RefSeq Summary

This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cyt...

Pfam Domains

SH2aa 79–154UCSCSH2 domain
SOCS_boxaa 170–205UCSCSOCS box

Gene Aliases

HGNC Name

suppressor of cytokine signaling 1

HGNC Alias Symbols

SOCS-1; SSI-1; JAB; TIP3; Cish1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003745.2
p.P48P
c.144G>A
Surrounding Variants
1 paper
NM_003745.2
p.A49S
c.145G>T
1 paper
NM_003745.2
p.A49T
c.145G>A
1 paper
NM_003745.2
p.P48L
c.143C>T
1 paper
NM_003745.2
p.A49V
c.146C>T
1 paper
NM_003745.2
p.P48A
c.142C>G
1 paper
NM_003745.2
p.S32_P48Fs
c.95_142delinsTCCTTCCTCCTCCTCGCCCGFs
2 papers
NM_003745.2
p.A47V
c.140C>T
1 paper
NM_003745.2
p.P50S
c.148C>T
1 paper
NM_003745.2
p.A47G
c.140C>G
2 papers
NM_003745.2
p.V45_A47ins1
c.134_139dup6
2 papers
NM_003745.2
p.A47ins2
c.139_140ins6
4 papers
NM_003745.2
p.A47T
c.139G>A
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