Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.M288L

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.M288L
c.862A>T
Surrounding Variants
1 paper
NM_005491.5
p.M288L
c.862A>C
1 paper
NM_005491.5
p.M288_L289insFs
c.864_865insT
3 papers
NM_005491.5
p.Q286*
c.856C>T
1 paper
NM_005491.5
p.P295delFs
c.884delC
1 paper
NM_005491.5
p.P294S
c.880C>T
2 papers
NM_001177465.3
p.P270S
c.808C>T
4 papers
NM_005491.5
p.P297delFs
c.890delC
1 paper
NM_005491.5
p.P297S
c.889C>T
2 papers
NM_005491.5
p.A279T
c.835G>A
1 paper
NM_005491.5
p.M278_S281del0
c.834_842del9
1 paper
NM_005491.5
p.S277L
c.830C>T
4 papers
NM_005491.5
p.P299A
c.895C>G
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