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.V220A

c.659T>C

Surrounding Variants

1 paper

NM_032999.4

p.G213E

c.638G>A

2 papers

NM_032999.4

p.Y248F

c.743A>T

1 paper

NM_032999.4

p.Q254delFs

c.761_762delAA

1 paper

NM_032999.4

p.Q254fs

c.760_761fs

1 paper

NM_032999.4

p.Q254_A255Fs

c.761_763delinsTFs

1 paper

NM_032999.4

p.K193M

c.578A>T

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