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.R611S

c.1833G>C

Surrounding Variants

1 paper

NM_012318.3

p.R611S

c.1833G>T

1 paper

NM_012318.3

p.I619I

c.1857C>T

1 paper

NM_012318.3

p.S624L

c.1871C>T

1 paper

NM_012318.3

p.Y598fs

c.1792_1793fs

1 paper

NM_012318.3

p.K597delFs

c.1791delC

2 papers

NM_012318.3

p.K597K

c.1791G>A

1 paper

NM_012318.3

p.K597Fs

c.1791delinsAAFs

1 paper

NM_012318.3

p.Q625_L626Fs

c.1874_1876delinsCFs

1 paper

NM_012318.3

p.K597fs

c.1789_1790fs

1 paper

NM_012318.3

p.G594C

c.1780G>T

4 papers

NM_012318.3

p.K587R

c.1760A>G

1 paper

NM_012318.3

p.A672A

c.2016C>T