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.Q1068H

c.3204G>T

Surrounding Variants

2 papers

NM_001142308.3

p.Q1068H

c.3204G>C

1 paper

NM_001142308.3

p.D1078G

c.3233A>G

1 paper

NM_001142308.3

p.D1081H

c.3241G>C

1 paper

NM_001142308.3

p.E1093K

c.3277G>A

1 paper

NM_001142308.3

p.K1099R

c.3296A>G