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

1–12 of 114 variants

31 papers

NM_032999.4

p.L424H

c.1271T>A

2 papers

NM_032999.4

p.M1I

c.3G>A

2 papers

NM_032999.4

p.Q3insFs

c.7dupC

2 papers

NM_032999.4

p.R143*

c.427C>T

2 papers

NM_032999.4

p.Y248F

c.743A>T

2 papers

NM_032999.4

p.S270A

c.808T>G

2 papers

NM_032999.4

p.N440S

c.1319A>G

2 papers

NM_032999.4

p.R523S

c.1569G>C

2 papers

NM_032999.4

p.R523S

c.1569G>T

2 papers

NM_032999.4

p.F600Y

c.1799T>A

2 papers

NM_032999.4

p.L733R

c.2198T>G

2 papers

NM_032999.4

p.R826Splc

c.2477-2A>G