Varaico: Literature-Extracted Genetic Variants

GTF2I

181 papers

RefSeq Summary

This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of ...

Pfam Domains

GTF2Iaa 112–186UCSCGTF2I-like repeat

GTF2Iaa 361–435UCSCGTF2I-like repeat

GTF2Iaa 466–540UCSCGTF2I-like repeat

GTF2Iaa 571–645UCSCGTF2I-like repeat

GTF2Iaa 733–807UCSCGTF2I-like repeat

GTF2Iaa 868–942UCSCGTF2I-like repeat

Gene Aliases

HGNC Name

general transcription factor IIi

HGNC Previous Symbol

WBSCR6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032999.4

p.S839L

c.2516C>T

Surrounding Variants

1 paper

NM_032999.4

p.I851V

c.2551A>G

1 paper

NM_032999.4

p.P852Q

c.2555C>A

2 papers

NM_032999.4

p.R826Splc

c.2477-2A>G

1 paper

NM_032999.4

p.L859F

c.2575C>T

1 paper

NM_032999.4

p.S860delFs

c.2579delC

1 paper

NM_032999.4

p.S860*

c.2579C>A

2 papers

NM_032999.4

p.K864Q

c.2590A>C

1 paper

NM_032999.4

p.R866fs

c.2596_2597fs

1 paper

NM_032999.4

p.D874D

c.2622C>T

1 paper

NM_032999.4

p.Y894C

c.2681A>G

1 paper

NM_032999.4

p.G908R

c.2722G>C

1 paper

NM_032999.4

p.R928R

c.2784G>A