Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.G532R

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.G532R
c.1594G>C
Surrounding Variants
1 paper
NM_005491.5
p.P536S
c.1606C>T
1 paper
NM_001177465.3
p.Q499*
c.1495C>T
NM_005491.5
p.Q524*
c.1570C>T
1 paper
NM_005491.5
p.G540_S546delFs
c.1619_1637del19
1 paper
NM_005491.5
p.Q524_P531del8
c.1570_1592del24
1 paper
NM_005491.5
p.M520I
c.1560G>A
1 paper
NM_005491.5
p.P544L
c.1631C>T
1 paper
NM_005491.5
p.K516I
c.1547A>T
1 paper
NM_005491.5
p.S550_E551insFs
c.1650_1651insC
1 paper
NM_005491.5
p.S512N
c.1535G>A
1 paper
NM_005491.5
p.I510M
c.1530A>G
1 paper
NM_001177465.3
p.P529T
c.1585C>A
1 paper
NM_005491.5
p.F507S
c.1520T>C
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