Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.Q498R

MAMLD1

294 papers

RefSeq Summary

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alterna...

Gene Aliases

HGNC Name

mastermind like domain containing 1

HGNC Alias Symbols

CG1; F18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005491.5
p.Q498R
c.1493A>G
Surrounding Variants
2 papers
NM_005491.5
p.Q499*
c.1495C>T
1 paper
NM_005491.5
p.Q496*
c.1486C>T
1 paper
NM_001177465.3
p.Q476_Q477insQ
c.1426_1430ins3
1 paper
NM_005491.5
p.Q502del1
c.1504_1505delCAA
1 paper
NM_001177465.3
p.Q477ins1
c.1430_1431insCAG
2 papers
NM_005491.5
p.Q501_Q502ins0
c.1503_1505dupGCA
1 paper
NM_005491.5
p.Q500_Q502ins1
c.1500_1505dup6
1 paper
NM_005491.5
p.Q499_Q502ins1
c.1497_1505dup9
1 paper
NM_005491.5
p.Q501del1
c.1501_1502delCAG
1 paper
NM_005491.5
p.Q493R
c.1478A>G
4 papers
NM_005491.5
p.A503E
c.1508C>A
NM_001177465.3
p.A478E
c.1433C>A
13 papers
NM_005491.5
p.V505A
c.1514T>C
NM_001177465.3
p.V480A
c.1439T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."