Varaico: Literature-Extracted Genetic Variants

GTF2IRD1

109 papers

RefSeq Summary

The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and fu...

Pfam Domains

GTF2Iaa 128–202UCSCGTF2I-like repeat

GTF2Iaa 351–425UCSCGTF2I-like repeat

GTF2Iaa 565–639UCSCGTF2I-like repeat

GTF2Iaa 705–779UCSCGTF2I-like repeat

GTF2Iaa 802–876UCSCGTF2I-like repeat

Gene Aliases

HGNC Name

GTF2I repeat domain containing 1

HGNC Previous Symbol

WBSCR11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005685.4

p.H371_M372insFs

c.1113_1114insT

Surrounding Variants

1 paper

NM_005685.4

p.P374S

c.1120C>T

2 papers

NM_005685.4

p.V375M

c.1123G>A

1 paper

NM_005685.4

p.G368R

c.1102G>C

1 paper

NM_005685.4

p.G368C

c.1102G>T

1 paper

NM_005685.4

p.P376T

c.1126C>A

1 paper

NM_005685.4

p.Y377C

c.1130A>G

2 papers

NM_005685.4

p.R378W

c.1132C>T

1 paper

NM_005685.4

p.V390M

c.1168G>A

1 paper

NM_005685.4

p.G391V

c.1172G>T

1 paper

NM_005685.4

p.P393S

c.1177C>T

1 paper

NM_005685.4

p.P397S

c.1189C>T

1 paper

NM_005685.4

p.R400C

c.1198C>T