Varaico: Literature-Extracted Genetic Variants

Gene:MID1
Variant:p.S511fs

MID1

211 papers

RefSeq Summary

The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zi...

Pfam Domains

zf-RING_UBOXaa 10–57UCSCRING-type zinc-finger
ANCHR-like_BBOXaa 118–161UCSCANCHR-like B-box zinc-binding domain
zf-B_boxaa 171–212UCSCB-box zinc finger
COSaa 323–374UCSCTRIM C-terminal subgroup One Signature domain
fn3aa 383–479UCSCFibronectin type III domain
SPRYaa 540–655UCSCSPRY domain

Gene Aliases

HGNC Name

midline 1

HGNC Alias Symbols

FXY; TRIM18; RNF59

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000381.4
p.S511fs
c.1531_1532fs
Surrounding Variants
1 paper
NM_000381.4
p.K514*
c.1540A>T
1 paper
NM_000381.4
p.K515N
c.1545G>T
1 paper
NM_000381.4
p.K515N
c.1545G>C
1 paper
NM_000381.4
p.E507Q
c.1519G>C
2 papers
NM_000381.4
p.K515_S516delFs
c.1545_1546delTC
1 paper
NM_000381.4
p.V506insFs
c.1516_1517insA
2 papers
NM_000381.4
p.H517_T518insFs
c.1551_1552ins5
1 paper
NM_000381.4
p.E520G
c.1559A>G
3 papers
NM_000381.4
p.E520insFs
c.1558_1559insG
5 papers
NM_000381.4
p.R521C
c.1561C>T
1 paper
NM_000381.4
p.R521H
c.1562G>A
1 paper
NM_000381.4
p.T523A
c.1567A>G
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