Varaico: Literature-Extracted Genetic Variants

YME1L1

169 papers

RefSeq Summary

The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast st...

Pfam Domains

AAAaa 375–506UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 528–572UCSCAAA+ lid domain

Peptidase_M41aa 586–764UCSCPeptidase family M41

Gene Aliases

HGNC Name

YME1 like 1 ATPase

HGNC Previous Names

YME1 (S.cerevisiae)-like 1; YME1-like 1 (S. cerevisiae); YME1-like 1 ATPase

Papers

RefSeq ID

Protein change

DNA change

1–12 of 77 variants

3 papers

NM_014263.4

p.R149W

c.445C>T

2 papers

NM_014263.4

p.M1V

c.1A>G

2 papers

NM_014263.4

p.Q11L

c.32A>T

2 papers

NM_014263.4

p.P143P

c.429A>G

2 papers

NM_014263.4

p.P176A

c.526C>G

2 papers

NM_014263.4

p.V179M

c.535G>A

2 papers

NM_014263.4

p.E392K

c.1174G>A

2 papers

NM_014263.4

p.F413L

c.1237T>C

2 papers

NM_014263.4

p.E543Q

c.1627G>C

2 papers

NM_014263.4

p.E661K

c.1981G>A

1 paper

NM_014263.4

p.L4ins2

c.10_11ins6

1 paper

NM_014263.4

p.Q9fs

c.25_26fs