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.L166P

c.497T>C

Surrounding Variants

2 papers

NM_001724.5

p.W169*

c.506G>A

2 papers

NM_001724.5

p.W169*

c.507G>A

1 paper

NM_001724.5

p.N170K

c.510T>A

1 paper

NM_001724.5

p.N170K

c.510T>G

1 paper

NM_001724.5

p.R172K

c.515G>A

1 paper

NM_001724.5

p.R172S

c.516G>T

1 paper

NM_001724.5

p.E176K

c.526G>A

1 paper

NM_001724.5

p.V177I

c.529G>A

1 paper

NM_001724.5

p.R154L

c.461G>T

1 paper

NM_001724.5

p.R154W

c.460C>T

3 papers

NM_001724.5

p.R179C

c.535C>T

1 paper

NM_001724.5

p.R179H

c.536G>A