Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1

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
1–12 of 288 variants
12 papers
NM_005491.5
p.V505A
c.1514T>C
11 papers
NM_005491.5
p.N662S
c.1985A>G
8 papers
NM_005491.5
p.P384L
c.1151C>T
6 papers
NM_005491.5
p.S143*
c.428C>A
6 papers
NM_005491.5
p.P334S
c.1000C>T
6 papers
NM_005491.5
p.P359S
c.1075C>T
5 papers
NM_005491.5
p.S143*
c.428C>G
5 papers
NM_005491.5
p.E197*
c.589G>T
5 papers
NM_005491.5
p.L210*
c.629T>A
5 papers
NM_005491.5
p.L210*
c.629T>G
5 papers
NM_005491.5
p.Q270*
c.808C>T
5 papers
NM_005491.5
p.H347Q
c.1041C>A
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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."