Varaico: Literature-Extracted Genetic Variants

Gene:TRIM49
Variant:p.S327R

TRIM49

39 papers

RefSeq Summary

The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This gene has been found to be preferentially expressed in testis. Related p...

Pfam Domains

zf-C3HC4_4aa 15–55UCSCzinc finger of C3HC4-type, RING
zf-B_boxaa 88–129UCSCB-box zinc finger
SPRYaa 340–451UCSCSPRY domain

Gene Aliases

HGNC Name

tripartite motif containing 49

HGNC Alias Symbol

TRIM49A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020358.2
p.S327R
c.981T>A
Surrounding Variants
2 papers
NM_020358.2
p.S327R
c.981T>G
2 papers
NM_020358.2
p.S327R
c.979A>C
1 paper
NM_020358.2
p.L329I
c.985C>A
1 paper
NM_020358.2
p.W331C
c.993G>T
1 paper
NM_020358.2
p.W331C
c.993G>C
2 papers
NM_020358.2
p.H346H
c.1038T>C
1 paper
NM_020358.2
p.W353L
c.1058G>T
6 papers
NM_020358.2
p.N298S
c.893A>G
4 papers
NM_020358.2
p.H293D
c.877C>G
1 paper
NM_020358.2
p.E369K
c.1105G>A
1 paper
NM_020358.2
p.D372N
c.1114G>A
3 papers
NM_020358.2
p.G373R
c.1117G>C
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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."