Varaico: Literature-Extracted Genetic Variants

ENO3

100 papers

RefSeq Summary

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A...

Pfam Domains

Enolase_Naa 3–134UCSCEnolase, N-terminal domain

Enolase_Caa 142–432UCSCEnolase, C-terminal TIM barrel domain

Gene Aliases

HGNC Name

enolase 3

HGNC Previous Names

enolase 3, (beta, muscle); enolase 3 (beta, muscle)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 115 variants

5 papers

NM_053013.4

p.G156D

c.467G>A

4 papers

NM_053013.4

p.N71S

c.212A>G

4 papers

NM_053013.4

p.A76P

c.226G>C

4 papers

NM_053013.4

p.G374E

c.1121G>A

4 papers

NM_053013.4

p.R403H

c.1208G>A

3 papers

NM_053013.4

p.V85A

c.254T>C

2 papers

NM_053013.4

p.G113D

c.338G>A

2 papers

NM_053013.4

p.E187K

c.559G>A

2 papers

NM_053013.4

p.M411L

c.1231A>C

2 papers

NM_053013.4

p.M411L

c.1231A>T

1 paper

NM_053013.4

p.M1insFs

c.1dupA

1 paper

NM_053013.4

p.M1insFs

c.1_2ins46