Varaico: Literature-Extracted Genetic Variants

GTF2IRD2B

19 papers

RefSeq Summary

This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, on...

Pfam Domains

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

FAM200-GTF2IRD2-likeaa 652–799UCSCFAM200/GTF2IRD2 RNase-like helical

Gene Aliases

HGNC Name

GTF2I repeat domain containing 2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001003795.3

p.D528G

c.1583A>G

Surrounding Variants

5 papers

NM_001003795.3

p.S500L

c.1499C>T

2 papers

NM_001003795.3

p.L597S

c.1790T>C

1 paper

NM_001003795.3

p.I608M

c.1824C>G

1 paper

NM_001003795.3

p.A662V

c.1985C>T

1 paper

NM_001003795.3

p.H862H

c.2586C>T

1 paper

NM_001003795.3

p.H903D

c.2707C>G

4 papers

NM_001003795.3

p.A381D

c.1142C>A