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

1–12 of 112 variants

4 papers

NM_012318.3

p.K587R

c.1760A>G

3 papers

NM_012318.3

p.R115H

c.344G>A

2 papers

NM_012318.3

p.I82V

c.244A>G

2 papers

NM_012318.3

p.R106H

c.317G>A

2 papers

NM_012318.3

p.R294Q

c.881G>A

2 papers

NM_012318.3

p.R393H

c.1178G>A

2 papers

NM_012318.3

p.P516P

c.1548T>C

2 papers

NM_012318.3

p.K597K

c.1791G>A

1 paper

NM_012318.3

p.M1insFs

c.2dupT

1 paper

NM_012318.3

p.S3S

c.9C>G

1 paper

NM_012318.3

p.S8I

c.23G>T

1 paper

NM_012318.3

p.P14L

c.41C>T