Varaico: Literature-Extracted Genetic Variants

EFTUD2

221 papers

RefSeq Summary

This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosi...

Pfam Domains

EFTUD2aa 3–110UCSC116 kDa U5 small nuclear ribonucleoprotein component N-terminus

GTP_EFTUaa 127–440UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 489–566UCSCElongation factor Tu domain 2

EFG_IIIaa 584–656UCSCElongation Factor G, domain III

EFG_IVaa 703–824UCSCElongation factor G, domain IV

EFG_Caa 826–915UCSCElongation factor G C-terminus

Gene Aliases

HGNC Name

elongation factor Tu GTP binding domain containing 2

HGNC Alias Symbols

U5-116KD; Snrp116; Snu114; SNRNP116

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004247.4

p.K654_V655Splc

c.1962+4C>G

Surrounding Variants

1 paper

NM_004247.4

p.K654_V655Splc

c.1962+2T>C

5 papers

NM_004247.4

p.K654_V655Splc

c.1962+1G>A

1 paper

NM_004247.4

p.D652N

c.1954G>A

1 paper

NM_004247.4

p.V640G

c.1919T>G

8 papers

NM_004247.4

p.L637R

c.1910T>G

1 paper

NM_004247.4

p.L635insFs

c.1904dupT

1 paper

NM_004247.4

p.T632fs

c.1894_1895fs

1 paper

NM_004247.4

p.T632delFs

c.1895delG

1 paper

NM_004247.4

p.H627insFs

c.1879dupC

1 paper

NM_004247.4

p.E623_S624del2

c.1867_1871del6

1 paper

NM_004247.4

p.K654_V655Splc

c.1962+100A>G

2 papers

NM_004247.4

p.K620_V621Splc

c.1861-2A>G