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

2 papers

NM_012318.3

p.R393H

c.1178G>A

Surrounding Variants

1 paper

NM_012318.3

p.Q400_W401Splc

c.1200+4C>T

1 paper

NM_012318.3

p.G383A

c.1148G>C

1 paper

NM_012318.3

p.A381delFs

c.1141delC

1 paper

NM_012318.3

p.R380P

c.1139G>C

1 paper

NM_012318.3

p.R380W

c.1138C>T

1 paper

NM_012318.3

p.V367A

c.1100T>C

1 paper

NM_012318.3

p.G366A

c.1097G>C

1 paper

NM_012318.3

p.E365A

c.1094A>C

1 paper

NM_012318.3

p.Q449E

c.1345C>G

1 paper

NM_012318.3

p.K451T

c.1352A>C

1 paper

NM_012318.3

p.H480R

c.1439A>G

1 paper

NM_012318.3

p.Q505*

c.1513C>T