Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.D211N

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
3 papers
NM_005491.5
p.D211N
c.631G>A
NM_001177465.3
p.D186N
c.556G>A
Surrounding Variants
6 papers
NM_005491.5
p.L210*
c.629T>A
NM_001177465.3
p.L185*
c.554T>A
6 papers
NM_005491.5
p.L210*
c.629T>G
NM_001177465.3
p.L185*
c.554T>G
4 papers
NM_005491.5
p.V209delFs
c.626delT
NM_001177465.3
p.V184delFs
c.551delT
1 paper
NM_005491.5
p.P213P
c.639C>T
1 paper
NM_001177465.3
p.P182delFs
c.546delA
1 paper
NM_005491.5
p.E206K
c.616G>A
1 paper
NM_005491.5
p.E206Q
c.616G>C
1 paper
NM_005491.5
p.P204S
c.610C>T
3 papers
NM_005491.5
p.T202M
c.605C>T
NM_001177465.3
p.T177M
c.530C>T
1 paper
NM_005491.5
p.T220T
c.660T>C
1 paper
NM_005491.5
p.K222E
c.664A>G
1 paper
NM_005491.5
p.S224T
c.670T>A
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