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

8 papers

NM_001724.5

p.R62Q

c.185G>A

Surrounding Variants

4 papers

NM_001724.5

p.R62W

c.184C>T

1 paper

NM_001724.5

p.L48F

c.144A>C

1 paper

NM_001724.5

p.L48F

c.144A>T

1 paper

NM_001724.5

p.W78L

c.233G>T

1 paper

NM_001724.5

p.K43R

c.128A>G

3 papers

NM_001724.5

p.K43Q

c.127A>C

1 paper

NM_001724.5

p.C41Y

c.122G>A

2 papers

NM_001724.5

p.R86insFs

c.258dupT

2 papers

NM_001724.5

p.L87fs

c.259_260fs

3 papers

NM_001724.5

p.L87P

c.260T>C

1 paper

NM_001724.5

p.E89A

c.266A>C

8 papers

NM_001724.5

p.R90C

c.268C>T