Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.M608_L611delFs

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_001177465.3
p.M608_L611delFs
c.1822_1831del10
Surrounding Variants
1 paper
NM_005491.5
p.R623H
c.1868G>A
1 paper
NM_005491.5
p.Q620*
c.1858C>T
2 papers
NM_001177465.3
p.Q580R
c.1739A>G
1 paper
NM_001177465.3
p.Q579ins3
c.1736_1737ins9
1 paper
NM_001177465.3
p.Q579ins3
c.1735_1736ins9
1 paper
NM_001177465.3
p.Q579_Q580insQQQ
c.1735_1739ins9
6 papers
NM_005491.5
p.Q602K
c.1804C>A
NM_001177465.3
p.Q577K
c.1729C>A
1 paper
NM_001177465.3
p.Q577*
c.1729C>T
1 paper
NM_005491.5
p.Q600_Q601del1
c.1800_1802delGCA
4 papers
NM_005491.5
p.Q580R
c.1739A>G
NM_001177465.3
p.Q555R
c.1664A>G
1 paper
NM_005491.5
p.Q580*
c.1738C>T
1 paper
NM_005491.5
p.T577_A581del0
c.1731_1742del12
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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."