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

Selected Variant

1 paper

NM_173537.5

p.I608N

c.1823T>A

Surrounding Variants

1 paper

NM_173537.5

p.N605K

c.1815C>G

1 paper

NM_173537.5

p.N605K

c.1815C>A

1 paper

NM_173537.5

p.K604fs

c.1810_1811fs

1 paper

NM_173537.5

p.K612R

c.1835A>G

1 paper

NM_173537.5

p.M624T

c.1871T>C

1 paper

NM_173537.5

p.V673M

c.2017G>A

1 paper

NM_173537.5

p.S543Y

c.1628C>A

1 paper

NM_173537.5

p.S683Y

c.2048C>A

1 paper

NM_173537.5

p.N514H

c.1540A>C

1 paper

NM_173537.5

p.R716C

c.2146C>T

2 papers

NM_173537.5

p.S500L

c.1499C>T

1 paper

NM_173537.5

p.F724F

c.2172C>T