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.D687E

c.2061C>G

Surrounding Variants

1 paper

NM_012318.3

p.D687E

c.2061C>A

1 paper

NM_012318.3

p.D687N

c.2059G>A

1 paper

NM_012318.3

p.N678K

c.2034C>G

1 paper

NM_012318.3

p.N678K

c.2034C>A

1 paper

NM_012318.3

p.N678S

c.2033A>G

1 paper

NM_012318.3

p.D676A

c.2027A>C

1 paper

NM_012318.3

p.A672A

c.2016C>T

1 paper

NM_012318.3

p.K690_V691Splc

c.2071-9C>G

1 paper

NM_012318.3

p.V691fs

c.2071_2072fs

1 paper

NM_012318.3

p.Q625_L626Fs

c.1874_1876delinsCFs

1 paper

NM_012318.3

p.S624L

c.1871C>T

1 paper

NM_012318.3

p.D699fs

c.2095_2096fs