Varaico: Literature-Extracted Genetic Variants

Gene:MYOCD
Variant:p.Q647H

MYOCD

132 papers

RefSeq Summary

This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and...

Pfam Domains

RPELaa 107–130UCSCRPEL repeat
SAPaa 370–406UCSCSAP domain

Gene Aliases

HGNC Name

myocardin

HGNC Alias Symbol

MYCD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001146312.3
p.Q647H
c.1941G>T
Surrounding Variants
2 papers
NM_001146312.3
p.Q647H
c.1941G>C
1 paper
NM_001146312.3
p.S654L
c.1961C>T
1 paper
NM_001146312.3
p.S634Y
c.1901C>A
1 paper
NM_001146312.3
p.G610R
c.1828G>A
1 paper
NM_001146312.3
p.G610R
c.1828G>C
1 paper
NM_001146312.3
p.P599T
c.1795C>A
1 paper
NM_001146312.3
p.A582fs
c.1744_1745fs
1 paper
NM_001146312.3
p.K561*
c.1681A>T
1 paper
NM_001146312.3
p.E538*
c.1612G>T
1 paper
NM_001146312.3
p.E530G
c.1589A>G
1 paper
NM_001146312.3
p.P507S
c.1519C>T
1 paper
NM_001146312.3
p.P480H
c.1439C>A
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