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

1–12 of 138 variants

3 papers

NM_001142308.3

p.R292C

c.874C>T

3 papers

NM_001142308.3

p.T469A

c.1405A>G

3 papers

NM_001142308.3

p.A666V

c.1997C>T

3 papers

NM_001142308.3

p.V1417A

c.4250T>C

3 papers

NM_001142308.3

p.H1721Q

c.5163T>A

3 papers

NM_001142308.3

p.H1721Q

c.5163T>G

2 papers

NM_001142308.3

p.S480W

c.1439C>G

2 papers

NM_001142308.3

p.S887N

c.2660G>A

2 papers

NM_001142308.3

p.Q1068H

c.3204G>C

2 papers

NM_001142308.3

p.Q1068H

c.3204G>T

2 papers

NM_001142308.3

p.D1266A

c.3797A>C

2 papers

NM_001142308.3

p.I1277V

c.3829A>G