Varaico: Literature-Extracted Genetic Variants

Gene:CCL5
Variant:p.K48R

CCL5

234 papers

RefSeq Summary

This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The sup...

Pfam Domains

IL8aa 31–76UCSCSmall cytokines (intecrine/chemokine), interleukin-8 like
IL8aa 31–88UCSCSmall cytokines (intecrine/chemokine), interleukin-8 like

Gene Aliases

HGNC Name

C-C motif chemokine ligand 5

HGNC Previous Symbols

D17S136E; SCYA5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002985.3
p.K48R
c.143A>G
Surrounding Variants
1 paper
NM_002985.3
p.K48K
c.144G>A
1 paper
NM_002985.3
p.I38_H46del0
c.112_138del27
1 paper
NM_002985.3
p.P43_E49del0
c.128_145del18
1 paper
NM_002985.3
p.P41_H46del0
c.121_138del18
1 paper
NM_002985.3
p.F35_H46del0
c.103_138del36
1 paper
NM_002985.3
p.H46H
c.138C>T
5 papers
NM_002985.3
p.H46D
c.136C>G
1 paper
NM_002985.3
p.P41_A45del0
c.123_134del12
1 paper
NM_002985.3
p.A45V
c.134C>T
1 paper
NM_002985.3
p.P43_R44del1
c.129_131delCGG
1 paper
NM_002985.3
p.H46_F51del0
c.138_152del15
1 paper
NM_002985.3
p.R44L
c.131G>T
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