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.R63L

c.188G>T

Surrounding Variants

1 paper

NM_032999.4

p.E60Q

c.178G>C

1 paper

NM_032999.4

p.F55L

c.163T>C

1 paper

NM_032999.4

p.V54M

c.160G>A

1 paper

NM_032999.4

p.K78R

c.233A>G

1 paper

NM_032999.4

p.A38A

c.114C>A

1 paper

NM_032999.4

p.L37P

c.110T>C

1 paper

NM_032999.4

p.C34C

c.102T>C

1 paper

NM_032999.4

p.M33_C34Splc

c.99+1G>T

1 paper

NM_032999.4

p.L30P

c.89T>C

1 paper

NM_032999.4

p.S17W

c.50C>G

1 paper

NM_032999.4

p.S16S

c.48C>G

1 paper

NM_032999.4

p.E14D

c.42G>C