Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.K516I

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.K516I
c.1547A>T
Surrounding Variants
1 paper
NM_005491.5
p.S512N
c.1535G>A
1 paper
NM_005491.5
p.M520I
c.1560G>A
1 paper
NM_005491.5
p.I510M
c.1530A>G
1 paper
NM_005491.5
p.Q524_P531del8
c.1570_1592del24
1 paper
NM_001177465.3
p.Q499*
c.1495C>T
NM_005491.5
p.Q524*
c.1570C>T
1 paper
NM_005491.5
p.F507S
c.1520T>C
13 papers
NM_005491.5
p.V505A
c.1514T>C
NM_001177465.3
p.V480A
c.1439T>C
4 papers
NM_005491.5
p.A503E
c.1508C>A
NM_001177465.3
p.A478E
c.1433C>A
1 paper
NM_001177465.3
p.Q477ins1
c.1430_1431insCAG
1 paper
NM_005491.5
p.Q502del1
c.1504_1505delCAA
1 paper
NM_001177465.3
p.Q476_Q477insQ
c.1426_1430ins3
1 paper
NM_005491.5
p.G532R
c.1594G>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."