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

1–12 of 129 variants

3 papers

NM_005685.4

p.I684V

c.2050A>G

3 papers

NM_005685.4

p.V726A

c.2177T>C

2 papers

NM_005685.4

p.R195H

c.584G>A

2 papers

NM_005685.4

p.R352Q

c.1055G>A

2 papers

NM_005685.4

p.V375M

c.1123G>A

2 papers

NM_005685.4

p.R378W

c.1132C>T

1 paper

NM_005685.4

p.M1I

c.3G>T

1 paper

NM_005685.4

p.L4insFs

c.10_11insG

1 paper

NM_005685.4

p.K6N

c.18G>T

1 paper

NM_005685.4

p.R7R

c.21C>G

1 paper

NM_005685.4

p.G14S

c.40G>A

1 paper

NM_005685.4

p.D18N

c.52G>A