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.S930R

c.2790C>A

Surrounding Variants

1 paper

NM_001142308.3

p.S930R

c.2790C>G

1 paper

NM_001142308.3

p.S930R

c.2788A>C

1 paper

NM_001142308.3

p.R944C

c.2830C>T

1 paper

NM_001142308.3

p.S916F

c.2747C>T

1 paper

NM_001142308.3

p.Q961R

c.2882A>G

1 paper

NM_001142308.3

p.T893R

c.2678C>G

1 paper

NM_001142308.3

p.Q888*

c.2662C>T

2 papers

NM_001142308.3

p.S887N

c.2660G>A

1 paper

NM_001142308.3

p.R985W

c.2953A>T

1 paper

NM_001142308.3

p.Q876K

c.2626C>A

1 paper

NM_001142308.3

p.P995S

c.2983C>T

1 paper

NM_001142308.3

p.Q864P

c.2591A>C