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.K561del1

c.1681_1683delAAA

Surrounding Variants

1 paper

NM_032999.4

p.Y597C

c.1790A>G

1 paper

NM_032999.4

p.P598L

c.1793C>T

2 papers

NM_032999.4

p.F600Y

c.1799T>A

1 paper

NM_032999.4

p.L607F

c.1821G>C

1 paper

NM_032999.4

p.L607F

c.1821G>T

1 paper

NM_032999.4

p.L612F

c.1836G>C

1 paper

NM_032999.4

p.L612F

c.1836G>T

1 paper

NM_032999.4

p.E614D

c.1842G>T

1 paper

NM_032999.4

p.R634H

c.1901G>A

1 paper

NM_032999.4

p.N692N

c.2076T>C

1 paper

NM_032999.4

p.R702Q

c.2105G>A

1 paper

NM_032999.4

p.G718E

c.2153G>A