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.N138T

c.413A>C

Surrounding Variants

1 paper

NM_001724.5

p.D139N

c.415G>A

2 papers

NM_001724.5

p.R140Q

c.419G>A

1 paper

NM_001724.5

p.Y133F

c.398A>T

1 paper

NM_001724.5

p.C145*

c.435C>A

1 paper

NM_001724.5

p.D150Y

c.448G>T

1 paper

NM_001724.5

p.P123S

c.367C>T

1 paper

NM_001724.5

p.R154W

c.460C>T

1 paper

NM_001724.5

p.R154L

c.461G>T

2 papers

NM_001724.5

p.W115*

c.345G>A

2 papers

NM_001724.5

p.W115*

c.344G>A

3 papers

NM_001724.5

p.L166P

c.497T>C

1 paper

NM_001724.5

p.E110K

c.328G>A