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.K807M

c.2420A>T

Surrounding Variants

1 paper

NM_032999.4

p.L761_F762del2

c.2281_2285del6

1 paper

NM_032999.4

p.A760V

c.2279C>T

1 paper

NM_032999.4

p.L751F

c.2251C>T

1 paper

NM_032999.4

p.A748V

c.2243C>T

2 papers

NM_032999.4

p.L733R

c.2198T>G

1 paper

NM_032999.4

p.G718E

c.2153G>A

1 paper

NM_032999.4

p.R702Q

c.2105G>A

1 paper

NM_032999.4

p.N692N

c.2076T>C

2 papers

NM_032999.4

p.R826Splc

c.2477-2A>G

1 paper

NM_032999.4

p.S839L

c.2516C>T

1 paper

NM_032999.4

p.I851V

c.2551A>G

1 paper

NM_032999.4

p.P852Q

c.2555C>A