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.E642K

c.1924G>A

Surrounding Variants

1 paper

NM_012143.4

p.N626S

c.1877A>G

1 paper

NM_012143.4

p.F658L

c.1972T>C

1 paper

NM_012143.4

p.F658L

c.1974C>G

1 paper

NM_012143.4

p.F658L

c.1974C>A

1 paper

NM_012143.4

p.S688L

c.2063C>T

1 paper

NM_012143.4

p.S691L

c.2072C>T

1 paper

NM_012143.4

p.K703R

c.2108A>G

1 paper

NM_012143.4

p.D544N

c.1630G>A

1 paper

NM_012143.4

p.L542V

c.1624C>G

1 paper

NM_012143.4

p.K534N

c.1602G>T

1 paper

NM_012143.4

p.K534N

c.1602G>C

1 paper

NM_012143.4

p.D521G

c.1562A>G