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

1 paper

NM_001142308.3

p.R296*

c.886A>T

Surrounding Variants

1 paper

NM_001142308.3

p.T293T

c.879A>G

3 papers

NM_001142308.3

p.R292C

c.874C>T

1 paper

NM_001142308.3

p.G286D

c.857G>A

1 paper

NM_001142308.3

p.L266Splc

c.797-143G>C

1 paper

NM_001142308.3

p.L247I

c.739C>A

1 paper

NM_001142308.3

p.A240S

c.718G>T

1 paper

NM_001142308.3

p.A322P

c.964G>C

1 paper

NM_001142308.3

p.G325G

c.975T>C

1 paper

NM_001142308.3

p.D332E

c.996C>A

1 paper

NM_001142308.3

p.D332E

c.996C>G

1 paper

NM_001142308.3

p.R365R

c.1093A>C

1 paper

NM_001142308.3

p.E395D

c.1185A>C