Varaico: Literature-Extracted Genetic Variants

MIEF2

35 papers

RefSeq Summary

This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to...

Pfam Domains

MID51-like_Caa 145–338UCSCMitochondrial dynamics protein MID51-like, C-terminal domain

Mab-21_Caa 369–444UCSCMab-21 protein HhH/H2TH-like domain

Gene Aliases

HGNC Name

mitochondrial elongation factor 2

HGNC Previous Symbol

SMCR7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

2 papers

NM_139162.4

p.Q81*

c.241C>T

1 paper

NM_139162.4

p.M1L

c.1A>C

1 paper

NM_139162.4

p.M1V

c.1A>G

1 paper

NM_139162.4

p.M1L

c.1A>T

1 paper

NM_139162.4

p.M1R

c.2T>G

1 paper

NM_139162.4

p.M1I

c.3G>A

1 paper

NM_139162.4

p.M1I

c.3G>C

1 paper

NM_139162.4

p.M1I

c.3G>T

1 paper

NM_139162.4

p.A2T

c.4G>A

1 paper

NM_139162.4

p.A2E

c.5C>A

1 paper

NM_139162.4

p.A2V

c.5C>T

1 paper

NM_148886.2

p.Q92*

c.274C>T