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.R117W

c.349A>T

Surrounding Variants

1 paper

NM_012143.4

p.D108H

c.322G>C

1 paper

NM_012143.4

p.Q107R

c.320A>G

1 paper

NM_012143.4

p.P104H

c.311C>A

1 paper

NM_012143.4

p.G88E

c.263G>A

1 paper

NM_012143.4

p.F80S

c.239T>C

1 paper

NM_012143.4

p.F80Y

c.239T>A

1 paper

NM_012143.4

p.Q129*

c.385C>T

1 paper

NM_012143.4

p.M140V

c.418A>G

2 papers

NM_012143.4

p.M140I

c.420G>T

2 papers

NM_012143.4

p.M140I

c.420G>C

2 papers

NM_012143.4

p.M140I

c.420G>A

1 paper

NM_012143.4

p.K159R

c.476A>G