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.Q347H

c.1041G>T

Surrounding Variants

1 paper

NM_012318.3

p.Q347H

c.1041G>C

1 paper

NM_012318.3

p.D358N

c.1072G>A

1 paper

NM_012318.3

p.S337F

c.1010C>T

1 paper

NM_012318.3

p.D358A

c.1073A>C

1 paper

NM_012318.3

p.D359A

c.1076A>C

1 paper

NM_012318.3

p.Q325Q

c.975G>A

1 paper

NM_012318.3

p.L318Q

c.953T>A

1 paper

NM_012318.3

p.I305L

c.913A>C

1 paper

NM_012318.3

p.P300S

c.898C>T

1 paper

NM_012318.3

p.T296_G297delFs

c.888_889delCT

1 paper

NM_012318.3

p.T296fs

c.886_887fs

2 papers

NM_012318.3

p.R294Q

c.881G>A