Varaico: Literature-Extracted Genetic Variants

Gene:DMTN
Variant:p.K89T

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.K89T
c.266A>C
Surrounding Variants
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
1 paper
NM_001387751.1
p.P93S
c.277C>T
2 papers
NM_001387751.1
p.P94fs
c.280_281fs
1 paper
NM_001387751.1
p.P95fs
c.283_284fs
1 paper
NM_001387751.1
p.E98K
c.292G>A
1 paper
NM_001387751.1
p.R104Q
c.311G>A
1 paper
NM_001387751.1
p.S105L
c.314C>T
2 papers
NM_001387751.1
p.P121L
c.362C>T
1 paper
NM_001387751.1
p.K142Q
c.424A>C
1 paper
NM_001387751.1
p.P144R
c.431C>G
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