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.V455Splc

c.1363+1G>A

Surrounding Variants

2 papers

NM_032999.4

p.N440S

c.1319A>G

1 paper

NM_032999.4

p.L439M

c.1315C>A

1 paper

NM_032999.4

p.K435fs

c.1303_1304fs

32 papers

NM_032999.4

p.L424H

c.1271T>A

NM_001518.5

p.L383H

c.1148T>A

NM_033000.4

p.L404H

c.1211T>A

1 paper

NM_032999.4

p.P417A

c.1249C>G

1 paper

NM_032999.4

p.S412S

c.1236T>C

1 paper

NM_032999.4

p.E404V

c.1211A>T

1 paper

NM_032999.4

p.L402H

c.1205T>A

1 paper

NM_032999.4

p.H393Y

c.1177C>T

1 paper

NM_032999.4

p.S392del1

c.1174_1176delTCT

1 paper

NM_032999.4

p.P388S

c.1162C>T

1 paper

NM_032999.4

p.P386L

c.1157C>T