Varaico: Literature-Extracted Genetic Variants

MALRD1

97 papers

RefSeq Summary

This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enric...

Pfam Domains

MAMaa 73–228UCSCMAM domain, meprin/A5/mu

MAMaa 270–426UCSCMAM domain, meprin/A5/mu

Ldl_recept_aaa 432–470UCSCLow-density lipoprotein receptor domain class A

MAMaa 476–636UCSCMAM domain, meprin/A5/mu

MAMaa 654–815UCSCMAM domain, meprin/A5/mu

MAMaa 865–1023UCSCMAM domain, meprin/A5/mu

Gene Aliases

HGNC Name

MAM and LDL receptor class A domain containing 1

HGNC Previous Symbol

C10orf112

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001142308.3

p.S480W

c.1439C>G

Surrounding Variants

1 paper

NM_001142308.3

p.S480L

c.1439C>T

1 paper

NM_001142308.3

p.Q528R

c.1583A>G

1 paper

NM_001142308.3

p.P531A

c.1591C>G

3 papers

NM_001142308.3

p.T469A

c.1405A>G

1 paper

NM_001142308.3

p.H419Y

c.1255C>T

1 paper

NM_001142308.3

p.Q411R

c.1232A>G

1 paper

NM_001142308.3

p.F404L

c.1212T>A

1 paper

NM_001142308.3

p.F404L

c.1212T>G

1 paper

NM_001142308.3

p.F404L

c.1210T>C