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.Q449E

c.1345C>G

Surrounding Variants

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

2 papers

NM_012318.3

p.P516P

c.1548T>C

1 paper

NM_012318.3

p.D517delFs

c.1549delC

1 paper

NM_012318.3

p.T528I

c.1583C>T

1 paper

NM_012318.3

p.L535F

c.1605G>T

1 paper

NM_012318.3

p.L535F

c.1605G>C

1 paper

NM_012318.3

p.Q400_W401Splc

c.1200+4C>T

2 papers

NM_012318.3

p.R393H

c.1178G>A

1 paper

NM_012318.3

p.G383A

c.1148G>C

1 paper

NM_012318.3

p.A381delFs

c.1141delC