Varaico: Literature-Extracted Genetic Variants

Gene:DMBT1

DMBT1

472 papers

RefSeq Summary

Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene...

Pfam Domains

SRCRaa 105–202UCSCScavenger receptor cysteine-rich domain
SRCRaa 237–334UCSCScavenger receptor cysteine-rich domain
SRCRaa 366–463UCSCScavenger receptor cysteine-rich domain
SRCRaa 497–594UCSCScavenger receptor cysteine-rich domain
SRCRaa 497–594UCSCScavenger receptor cysteine-rich domain
SRCRaa 605–702UCSCScavenger receptor cysteine-rich domain

Gene Aliases

HGNC Name

deleted in malignant brain tumors 1

HGNC Alias Symbols

GP340; SALSA; Gp-340

Papers
RefSeq ID
Protein change
DNA change
1–12 of 457 variants
10 papers
NM_001377530.1
p.H193Y
c.577C>T
7 papers
NM_001377530.1
p.W147L
c.440G>T
7 papers
NM_001377530.1
p.Y309delFs
c.926delA
6 papers
NM_001377530.1
p.N1303K
c.3909T>A
6 papers
NM_001377530.1
p.N1303K
c.3909T>G
5 papers
NM_001377530.1
p.H585Y
c.1753C>T
4 papers
NM_001377530.1
p.A101T
c.301G>A
4 papers
NM_001377530.1
p.T649M
c.1946C>T
4 papers
NM_001377530.1
p.H1074Y
c.3220C>T
3 papers
NM_001377530.1
p.P42T
c.124C>A
3 papers
NM_001377530.1
p.S54L
c.161C>T
3 papers
NM_001377530.1
p.P65L
c.194C>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."