Varaico: Literature-Extracted Genetic Variants

TFIP11

57 papers

RefSeq Summary

This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box...

Pfam Domains

TIP_Naa 16–113UCSCTuftelin interacting protein N terminal

G-patchaa 149–193UCSCG-patch domain

GCFCaa 397–666UCSCGC-rich sequence DNA-binding factor-like protein

Gene Aliases

HGNC Name

tuftelin interacting protein 11

HGNC Alias Symbols

TIP39; DKFZP434B194; Spp382

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012143.4

p.G174G

c.522T>A

Surrounding Variants

1 paper

NM_012143.4

p.I175I

c.525C>A

1 paper

NM_012143.4

p.I176I

c.528T>C

1 paper

NM_012143.4

p.N177N

c.531C>T

1 paper

NM_012143.4

p.P178P

c.534A>G

2 papers

NM_012143.4

p.K182N

c.546G>T

2 papers

NM_012143.4

p.K182N

c.546G>C

1 paper

NM_012143.4

p.D204V

c.611A>T

1 paper

NM_012143.4

p.E217V

c.650A>T

1 paper

NM_012143.4

p.K227Q

c.679A>C

1 paper

NM_012143.4

p.V243M

c.727G>A

1 paper

NM_012143.4

p.E262K

c.784G>A

1 paper

NM_012143.4

p.Q173Q

c.519A>G