Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.I271L

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.I271L
c.811A>T
Surrounding Variants
6 papers
NM_005491.5
p.Q270*
c.808C>T
NM_001177465.3
p.Q245*
c.733C>T
1 paper
NM_001177465.3
p.S243N
c.728G>A
1 paper
NM_005491.5
p.S277L
c.830C>T
1 paper
NM_005491.5
p.S263S
c.789G>A
1 paper
NM_005491.5
p.M278_S281del0
c.834_842del9
2 papers
NM_005491.5
p.A279T
c.835G>A
3 papers
NM_005491.5
p.Q286*
c.856C>T
1 paper
NM_005491.5
p.S256del1
c.766_767delTCC
1 paper
NM_005491.5
p.M288L
c.862A>C
1 paper
NM_005491.5
p.M288L
c.862A>T
1 paper
NM_005491.5
p.M288_L289insFs
c.864_865insT
1 paper
NM_005491.5
p.P295delFs
c.884delC
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