Varaico: Literature-Extracted Genetic Variants

Gene:MMRN1
Variant:p.K677M

MMRN1

147 papers

RefSeq Summary

Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized hom...

Pfam Domains

EMIaa 208–277UCSCEMI domain
EGFaa 1045–1075UCSCEGF-like domain
C1qaa 1102–1225UCSCC1q domain

Gene Aliases

HGNC Name

multimerin 1

HGNC Alias Symbols

EMILIN4; GPIa*

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007351.3
p.K677M
c.2030A>T
Surrounding Variants
3 papers
NM_007351.3
p.T664A
c.1990A>G
1 paper
NM_007351.3
p.Q661R
c.1982A>G
1 paper
NM_007351.3
p.R660I
c.1979G>T
1 paper
NM_007351.3
p.D641N
c.1921G>A
1 paper
NM_007351.3
p.R716H
c.2147G>A
1 paper
NM_007351.3
p.S636G
c.1906A>G
1 paper
NM_007351.3
p.M732T
c.2195T>C
1 paper
NM_007351.3
p.I735T
c.2204T>C
1 paper
NM_007351.3
p.E612Q
c.1834G>C
1 paper
NM_007351.3
p.H762H
c.2286T>C
1 paper
NM_007351.3
p.T766T
c.2298C>T
1 paper
NM_007351.3
p.M583I
c.1749G>A
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