Varaico: Literature-Extracted Genetic Variants

MEST

27 papers

RefSeq Summary

This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in ly...

Pfam Domains

Abhydrolase_1aa 70–321UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

mesoderm specific transcript

HGNC Previous Names

mesoderm specific transcript (mouse) homolog; mesoderm specific transcript homolog (mouse)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002402.4

p.I203I

c.609C>T

Surrounding Variants

1 paper

NM_002402.4

p.L217L

c.651C>T

1 paper

NM_002402.4

p.L175Q

c.524T>A

1 paper

NM_002402.4

p.Y254H

c.760T>C

1 paper

NM_002402.4

p.L136P

c.407T>C

1 paper

NM_002402.4

p.Q123ins3

c.368_369ins9

1 paper

NM_002402.4

p.Q123insFs

c.368_369ins4

1 paper

NM_002402.4

p.L105_G106delFs

c.313_316del4

1 paper

NM_002402.4

p.L105_G106del2

c.313_317del6

1 paper

NM_002402.4

p.R95G

c.283A>G

1 paper

NM_002402.4

p.S303S

c.909C>T

1 paper

NM_002402.4

p.S313_P316del4

c.937_947del12

1 paper

NM_002402.4

p.L318Q

c.953T>A