Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.Q315_A318del4

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.Q315_A318del4
c.943_953del12
Surrounding Variants
1 paper
NM_001177465.3
p.S288R
c.862A>C
1 paper
NM_005491.5
p.A312T
c.934G>A
1 paper
NM_005491.5
p.A311V
c.932C>T
1 paper
NM_005491.5
p.K308R
c.923A>G
1 paper
NM_005491.5
p.K308insFs
c.923dupA
1 paper
NM_001177465.3
p.P299A
c.895C>G
1 paper
NM_005491.5
p.P326A
c.976C>G
1 paper
NM_005491.5
p.P299L
c.896C>T
4 papers
NM_005491.5
p.P299A
c.895C>G
1 paper
NM_005491.5
p.P297S
c.889C>T
4 papers
NM_005491.5
p.P297delFs
c.890delC
6 papers
NM_005491.5
p.P334S
c.1000C>T
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