Varaico: Literature-Extracted Genetic Variants

Gene:MID2
Variant:p.R347Q

MID2

62 papers

RefSeq Summary

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil reg...

Pfam Domains

zf-RING_UBOXaa 30–77UCSCRING-type zinc-finger
ANCHR-like_BBOXaa 139–181UCSCANCHR-like B-box zinc-binding domain
zf-B_boxaa 191–232UCSCB-box zinc finger
COSaa 343–394UCSCTRIM C-terminal subgroup One Signature domain
fn3aa 403–530UCSCFibronectin type III domain
SPRYaa 590–705UCSCSPRY domain

Gene Aliases

HGNC Name

midline 2

HGNC Alias Symbols

FXY2; RNF60; MRX101

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_012216.4
p.R347Q
c.1040G>A
Surrounding Variants
2 papers
NM_012216.4
p.N343S
c.1028A>G
1 paper
NM_012216.4
p.K353E
c.1057A>G
2 papers
NM_012216.4
p.R328W
c.982C>T
2 papers
NM_012216.4
p.L312R
c.935T>G
1 paper
NM_012216.4
p.I304V
c.910A>G
1 paper
NM_012216.4
p.Q295L
c.884A>T
1 paper
NM_012216.4
p.A280G
c.839C>G
1 paper
NM_012216.4
p.V273L
c.817G>C
1 paper
NM_012216.4
p.V273L
c.817G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."