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

1–12 of 73 variants

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

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.R8Q

c.23G>A

1 paper

NM_012143.4

p.R13C

c.37C>T

1 paper

NM_012143.4

p.D18_D19del1

c.54_56delTCA

1 paper

NM_012143.4

p.D19del1

c.55_56delGTC

1 paper

NM_012143.4

p.R39Q

c.116G>A

1 paper

NM_012143.4

p.W54C

c.162G>T

1 paper

NM_012143.4

p.W54C

c.162G>C