Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.T114A

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.T114A
c.340A>G
Surrounding Variants
1 paper
NM_005491.5
p.T114P
c.340A>C
1 paper
NM_005491.5
p.I115_N116insAAG
c.343_347ins9
1 paper
NM_005491.5
p.N116D
c.346A>G
1 paper
NM_005491.5
p.P111H
c.332C>A
1 paper
NM_005491.5
p.V110F
c.328G>T
1 paper
NM_005491.5
p.A120T
c.358G>A
1 paper
NM_005491.5
p.A121T
c.361G>A
1 paper
NM_005491.5
p.A106T
c.316G>A
2 papers
NM_005491.5
p.G123R
c.367G>A
4 papers
NM_005491.5
p.V124L
c.370G>T
1 paper
NM_005491.5
p.V124delFs
c.371delT
1 paper
NM_005491.5
p.T103A
c.307A>G
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