Varaico: Literature-Extracted Genetic Variants

GTF2IRD2

35 papers

RefSeq Summary

This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein ...

Pfam Domains

CENP-B_Naa 17–70UCSCCENP-B N-terminal DNA-binding domain

HTH_Tnp_Tc5aa 89–159UCSCTc5 transposase DNA-binding domain

GTF2Iaa 107–181UCSCGTF2I-like repeat

GTF2Iaa 332–406UCSCGTF2I-like repeat

zf-C2H2_12aa 429–491UCSCSpin-doc/GT2D2, zinc finger domain

FAM200-ZBED5_RNase-likeaa 492–638UCSCFAM200/ZBED5 RNase-like

Gene Aliases

HGNC Name

GTF2I repeat domain containing 2

HGNC Alias Symbols

FLJ37938; GTF2IRD2A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

3 papers

NM_173537.5

p.A381D

c.1142C>A

2 papers

NM_173537.5

p.S500L

c.1499C>T

1 paper

NM_173537.5

p.M1R

c.2T>G

1 paper

NM_173537.5

p.E14insFs

c.41dupA

1 paper

NM_173537.5

p.K39E

c.115A>G

1 paper

NM_173537.5

p.Y119H

c.355T>C

1 paper

NM_173537.5

p.G120Splc

c.359-62C>A

1 paper

NM_173537.5

p.S254P

c.760T>C

1 paper

NM_173537.5

p.I444N

c.1331T>A

1 paper

NM_173537.5

p.E459*

c.1375G>T

1 paper

NM_173537.5

p.N514H

c.1540A>C

1 paper

NM_173537.5

p.S543Y

c.1628C>A