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.D206N

c.616G>A

Surrounding Variants

1 paper

NM_005685.4

p.R209W

c.625C>T

1 paper

NM_005685.4

p.R228Q

c.683G>A

1 paper

NM_005685.4

p.E269K

c.805G>A

1 paper

NM_005685.4

p.K271Q

c.811A>C

1 paper

NM_005685.4

p.K201R

c.602A>G

1 paper

NM_005685.4

p.R197C

c.589C>T

2 papers

NM_005685.4

p.R195H

c.584G>A

1 paper

NM_005685.4

p.Y181N

c.541T>A

1 paper

NM_005685.4

p.R176insFs

c.527dupG

1 paper

NM_005685.4

p.A174T

c.520G>A

1 paper

NM_005685.4

p.G172V

c.515G>T

1 paper

NM_005685.4

p.G168E

c.503G>A