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

1–12 of 47 variants

1 paper

NM_199168.4

p.N2D

c.4A>G

1 paper

NM_199168.4

p.V6M

c.16G>A

1 paper

NM_199168.4

p.V6fs

c.16_17fs

1 paper

NM_199168.4

p.V6A

c.17T>C

1 paper

NM_199168.4

p.V8L

c.22G>T

1 paper

NM_199168.4

p.V8L

c.22G>C

1 paper

NM_199168.4

p.V8E

c.23T>A

1 paper

NM_199168.4

p.L9L

c.25C>T

1 paper

NM_199168.4

p.V12M

c.34G>A

1 paper

NM_199168.4

p.L18F

c.52C>T

1 paper

NM_199168.4

p.D20A

c.59A>C

1 paper

NM_199168.4

p.G21Splc

c.62-27G>A