Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.Q580*

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.Q580*
c.1738C>T
Surrounding Variants
4 papers
NM_005491.5
p.Q580R
c.1739A>G
NM_001177465.3
p.Q555R
c.1664A>G
1 paper
NM_005491.5
p.T577_A581del0
c.1731_1742del12
1 paper
NM_005491.5
p.L573R
c.1718T>G
3 papers
NM_001177465.3
p.P542S
c.1624C>T
NM_005491.5
p.P567S
c.1699C>T
1 paper
NM_005491.5
p.Q600_Q601del1
c.1800_1802delGCA
6 papers
NM_005491.5
p.Q602K
c.1804C>A
NM_001177465.3
p.Q577K
c.1729C>A
1 paper
NM_001177465.3
p.Q577*
c.1729C>T
1 paper
NM_001177465.3
p.Q579ins3
c.1735_1736ins9
1 paper
NM_001177465.3
p.Q579_Q580insQQQ
c.1735_1739ins9
1 paper
NM_001177465.3
p.Q579ins3
c.1736_1737ins9
2 papers
NM_001177465.3
p.Q580R
c.1739A>G
1 paper
NM_001177465.3
p.P529T
c.1585C>A
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