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

1–12 of 58 variants

8 papers

NM_001724.5

p.R62Q

c.185G>A

8 papers

NM_001724.5

p.R90C

c.268C>T

7 papers

NM_001724.5

p.R90H

c.269G>A

5 papers

NM_001724.5

p.Q102K

c.304C>A

4 papers

NM_001724.5

p.R62W

c.184C>T

3 papers

NM_001724.5

p.K43Q

c.127A>C

3 papers

NM_001724.5

p.L87P

c.260T>C

3 papers

NM_001724.5

p.L166P

c.497T>C

3 papers

NM_001724.5

p.R179C

c.535C>T

2 papers

NM_001724.5

p.R21delFs

c.61delC

2 papers

NM_001724.5

p.R21fs

c.61_62fs

2 papers

NM_001724.5

p.R86insFs

c.258dupT