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.E812K

c.2434G>A

Surrounding Variants

1 paper

NM_001142308.3

p.C823W

c.2469T>G

1 paper

NM_001142308.3

p.G825R

c.2473G>A

1 paper

NM_001142308.3

p.D793H

c.2377G>C

1 paper

NM_001142308.3

p.R832P

c.2495G>C

1 paper

NM_001142308.3

p.A836A

c.2508T>C

1 paper

NM_001142308.3

p.R783C

c.2347C>T

1 paper

NM_001142308.3

p.R842W

c.2524C>T

1 paper

NM_001142308.3

p.R842Q

c.2525G>A

1 paper

NM_001142308.3

p.F738I

c.2212T>A

1 paper

NM_001142308.3

p.G729V

c.2186G>T

1 paper

NM_001142308.3

p.S726N

c.2177G>A

1 paper

NM_001142308.3

p.P723P

c.2169A>G