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

3 papers

NM_005685.4

p.I684V

c.2050A>G

Surrounding Variants

1 paper

NM_005685.4

p.S682L

c.2045C>T

1 paper

NM_005685.4

p.E675V

c.2024A>T

1 paper

NM_005685.4

p.N699D

c.2095A>G

1 paper

NM_005685.4

p.K717E

c.2149A>G

1 paper

NM_005685.4

p.R718Q

c.2153G>A

1 paper

NM_005685.4

p.G724C

c.2170G>T

3 papers

NM_005685.4

p.V726A

c.2177T>C

1 paper

NM_005685.4

p.E729Q

c.2185G>C

1 paper

NM_005685.4

p.G734R

c.2200G>A

1 paper

NM_005685.4

p.G734R

c.2200G>C

1 paper

NM_005685.4

p.R738*

c.2212C>T

1 paper

NM_005685.4

p.G744S

c.2230G>A