Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.I186F

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.I186F
c.556A>T
Surrounding Variants
1 paper
NM_005491.5
p.Q187*
c.559C>T
1 paper
NM_005491.5
p.P189A
c.565C>G
1 paper
NM_005491.5
p.P189L
c.566C>T
1 paper
NM_005491.5
p.E182G
c.545A>G
2 papers
NM_005491.5
p.E182delFs
c.546delG
NM_001177465.3
p.E157delFs
c.471delG
1 paper
NM_001177465.3
p.E157*
c.469G>T
1 paper
NM_005491.5
p.E182fs
c.544_545fs
4 papers
NM_005491.5
p.E182delFs
c.544delG
1 paper
NM_005491.5
p.L180P
c.539T>C
2 papers
NM_001177465.3
p.Q152*
c.454C>T
NM_005491.5
p.Q177*
c.529C>T
1 paper
NM_005491.5
p.Q177_E182del0
c.529_546del18
1 paper
NM_005491.5
p.E175_L183ins3
c.524_547dup24
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