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

3 papers

NM_001724.5

p.L87P

c.260T>C

Surrounding Variants

2 papers

NM_001724.5

p.L87fs

c.259_260fs

2 papers

NM_001724.5

p.R86insFs

c.258dupT

1 paper

NM_001724.5

p.E89A

c.266A>C

8 papers

NM_001724.5

p.R90C

c.268C>T

7 papers

NM_001724.5

p.R90H

c.269G>A

1 paper

NM_001724.5

p.H91delFs

c.273delC

1 paper

NM_001724.5

p.W78L

c.233G>T

1 paper

NM_001724.5

p.G97S

c.289G>A

1 paper

NM_001724.5

p.R100W

c.298A>T

5 papers

NM_001724.5

p.Q102K

c.304C>A

1 paper

NM_001724.5

p.A104V

c.311C>T

1 paper

NM_001724.5

p.G108S

c.322G>A