Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.S143*

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
5 papers
NM_005491.5
p.S143*
c.428C>G
Surrounding Variants
6 papers
NM_005491.5
p.S143*
c.428C>A
1 paper
NM_005491.5
p.P144L
c.431C>T
2 papers
NM_005491.5
p.G142D
c.425G>A
1 paper
NM_005491.5
p.G142del1
c.424_425delGGC
1 paper
NM_005491.5
p.I140_M141ins4
c.418_422ins12
1 paper
NM_005491.5
p.N139D
c.415A>G
2 papers
NM_001177465.3
p.Q124*
c.370C>T
NM_005491.5
p.Q149*
c.445C>T
1 paper
NM_005491.5
p.P135L
c.404C>T
1 paper
NM_005491.5
p.N133I
c.398A>T
1 paper
NM_005491.5
p.G157delFs
c.469delG
1 paper
NM_005491.5
p.P158A
c.472C>G
1 paper
NM_005491.5
p.A125D
c.374C>A
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