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.H289Q

c.867C>G

Surrounding Variants

1 paper

NM_012143.4

p.H289Q

c.867C>A

1 paper

NM_012143.4

p.L327L

c.981C>T

1 paper

NM_012143.4

p.C383S

c.1147T>A

1 paper

NM_012143.4

p.C383S

c.1148G>C

1 paper

NM_012143.4

p.R386W

c.1156C>T

1 paper

NM_012143.4

p.I403F

c.1207A>T

1 paper

NM_012143.4

p.Y412C

c.1235A>G

1 paper

NM_012143.4

p.R420H

c.1259G>A

1 paper

NM_012143.4

p.M432T

c.1295T>C

1 paper

NM_012143.4

p.E460Q

c.1378G>C

1 paper

NM_012143.4

p.E262K

c.784G>A

1 paper

NM_012143.4

p.V243M

c.727G>A