Varaico: Literature-Extracted Genetic Variants

BPGM

49 papers

RefSeq Summary

2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctio...

Pfam Domains

His_Phos_1aa 6–136UCSCHistidine phosphatase superfamily (branch 1)

His_Phos_1aa 130–230UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

bisphosphoglycerate mutase

HGNC Previous Name

2,3-bisphosphoglycerate mutase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001724.5

p.N17insFs

c.51dupT

Surrounding Variants

2 papers

NM_001724.5

p.R21delFs

c.61delC

2 papers

NM_001724.5

p.R21fs

c.61_62fs

1 paper

NM_001724.5

p.G12A

c.35G>C

1 paper

NM_001724.5

p.G12*

c.34G>T

1 paper

NM_001724.5

p.C23Y

c.68G>A

1 paper

NM_001724.5

p.S2F

c.5C>T

1 paper

NM_001724.5

p.S32N

c.95G>A

1 paper

NM_001724.5

p.C41Y

c.122G>A

3 papers

NM_001724.5

p.K43Q

c.127A>C

1 paper

NM_001724.5

p.K43R

c.128A>G

1 paper

NM_001724.5

p.L48F

c.144A>C

1 paper

NM_001724.5

p.L48F

c.144A>T