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.K193M

c.578A>T

Surrounding Variants

1 paper

NM_032999.4

p.R186Splc

c.557+1G>A

1 paper

NM_032999.4

p.G179A

c.536G>C

1 paper

NM_032999.4

p.W172L

c.515G>T

1 paper

NM_032999.4

p.A168T

c.502G>A

1 paper

NM_032999.4

p.S146L

c.437C>T

1 paper

NM_032999.4

p.R143Q

c.428G>A

2 papers

NM_032999.4

p.R143*

c.427C>T

1 paper

NM_032999.4

p.K140M

c.419A>T

1 paper

NM_032999.4

p.E139K

c.415G>A

1 paper

NM_032999.4

p.Y138*

c.414T>A

1 paper

NM_032999.4

p.Y138*

c.414T>G

1 paper

NM_032999.4

p.P135P

c.405T>C