Varaico: Literature-Extracted Genetic Variants

CXCL12

161 papers

RefSeq Summary

This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C...

Pfam Domains

IL8aa 28–86UCSCSmall cytokines (intecrine/chemokine), interleukin-8 like

Gene Aliases

HGNC Name

C-X-C motif chemokine ligand 12

HGNC Previous Symbols

SDF1A; SDF1B; SDF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_199168.4

p.K22T

c.65A>C

Surrounding Variants

1 paper

NM_199168.4

p.K22Q

c.64A>C

1 paper

NM_199168.4

p.V24I

c.70G>A

1 paper

NM_199168.4

p.R29_C30insFs

c.87_88insC

1 paper

NM_199168.4

p.R29Fs

c.85_87delinsTFs

1 paper

NM_199168.4

p.C30Y

c.89G>A

1 paper

NM_199168.4

p.R29_C30delFs

c.87_88delAT

1 paper

NM_199168.4

p.R29_C30delFs

c.85_88del4

1 paper

NM_199168.4

p.Y28_C30delFs

c.82_88del7

1 paper

NM_199168.4

p.C30C

c.90C>T

1 paper

NM_199168.4

p.C30delFs

c.89_90delGC

1 paper

NM_199168.4

p.C30delFs

c.90delG

1 paper

NM_199168.4

p.C32insFs

c.94_95insAG