Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.D73N

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
2 papers
NM_005491.5
p.D73N
c.217G>A
Surrounding Variants
1 paper
NM_005491.5
p.A75_P80insFs
c.224_240dup17
1 paper
NM_001177465.3
p.Q45R
c.134A>G
NM_005491.5
p.Q70R
c.209A>G
1 paper
NM_005491.5
p.F69C
c.206T>G
1 paper
NM_005491.5
p.G78S
c.232G>A
1 paper
NM_005491.5
p.D67Y
c.199G>T
1 paper
NM_005491.5
p.P80fs
c.238_239fs
1 paper
NM_005491.5
p.E66K
c.196G>A
1 paper
NM_005491.5
p.Q64E
c.190C>G
1 paper
NM_005491.5
p.R62M
c.185G>T
1 paper
NM_005491.5
p.K61K
c.183G>A
1 paper
NM_005491.5
p.C87S
c.259T>A
1 paper
NM_005491.5
p.E89K
c.265G>A
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