Varaico: Literature-Extracted Genetic Variants

Gene:DMTN
Variant:p.E77A

DMTN

65 papers

RefSeq Summary

The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte ...

Pfam Domains

AbLIM_anchoraa 8–355UCSCPutative adherens-junction anchoring region of AbLIM
VHPaa 370–405UCSCVillin headpiece domain

Gene Aliases

HGNC Name

dematin actin binding protein

HGNC Previous Symbol

EPB49

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387751.1
p.E77A
c.230A>C
Surrounding Variants
1 paper
NM_001387751.1
p.H67Y
c.199C>T
1 paper
NM_001387751.1
p.E57E
c.171G>A
1 paper
NM_001387751.1
p.I53I
c.159C>A
1 paper
NM_001387751.1
p.S29R
c.85A>C
1 paper
NM_001387751.1
p.R19Q
c.56G>A
1 paper
NM_001387751.1
p.S18F
c.53C>T
1 paper
NM_001387751.1
p.P17A
c.49C>G
1 paper
NM_001387751.1
p.Q7H
c.21A>C
1 paper
NM_001387751.1
p.K89T
c.266A>C
1 paper
NM_001387751.1
p.S90Y
c.269C>A
1 paper
NM_001387751.1
p.S92insFs
c.275dupC
2 papers
NM_001387751.1
p.S92fs
c.274_275fs
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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."