Varaico: Literature-Extracted Genetic Variants

LETM1

84 papers

RefSeq Summary

This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morpholog...

Pfam Domains

LETM1_RBDaa 191–422UCSCLETM1-like, RBD

LETM1_Caa 566–632UCSCLETM1-like, C-terminal domain

Gene Aliases

HGNC Name

leucine zipper and EF-hand containing transmembrane protein 1

HGNC Alias Symbols

SLC55A1; Mdm38

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012318.3

p.V114I

c.340G>A

Surrounding Variants

3 papers

NM_012318.3

p.R115H

c.344G>A

1 paper

NM_012318.3

p.H109R

c.326A>G

2 papers

NM_012318.3

p.R106H

c.317G>A

1 paper

NM_012318.3

p.K122K

c.366G>A

1 paper

NM_012318.3

p.L124_K125del2

c.370_374del6

1 paper

NM_012318.3

p.D129E

c.387C>G

1 paper

NM_012318.3

p.D129E

c.387C>A

1 paper

NM_012318.3

p.N131K

c.393C>G

1 paper

NM_012318.3

p.N131K

c.393C>A

1 paper

NM_012318.3

p.V96M

c.286G>A

1 paper

NM_012318.3

p.F95Y

c.284T>A

1 paper

NM_012318.3

p.A86A

c.258G>A