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

3 papers

NM_001142308.3

p.H1721Q

c.5163T>G

Surrounding Variants

3 papers

NM_001142308.3

p.H1721Q

c.5163T>A

1 paper

NM_001142308.3

p.S1724S

c.5172C>T

1 paper

NM_001142308.3

p.D1768G

c.5303A>G

1 paper

NM_001142308.3

p.S1714Y

c.5141C>A

1 paper

NM_001142308.3

p.D1712G

c.5135A>G

1 paper

NM_001142308.3

p.C1692C

c.5076C>T

1 paper

NM_001142308.3

p.V1677Splc

c.5030-1G>C

1 paper

NM_001142308.3

p.V1677Splc

c.5030-2431C>T