Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.S345fs

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.S345fs
c.1033_1034fs
Surrounding Variants
1 paper
NM_005491.5
p.S345delFs
c.1033delT
2 papers
NM_005491.5
p.P344L
c.1031C>T
1 paper
NM_005491.5
p.P346R
c.1037C>G
6 papers
NM_005491.5
p.H347Q
c.1041C>A
NM_001177465.3
p.H322Q
c.966C>A
6 papers
NM_005491.5
p.H347Q
c.1041C>G
NM_001177465.3
p.H322Q
c.966C>G
1 paper
NM_005491.5
p.P339S
c.1015C>T
1 paper
NM_005491.5
p.L353insFs
c.1059dupG
6 papers
NM_005491.5
p.P334S
c.1000C>T
3 papers
NM_005491.5
p.P356S
c.1066C>T
1 paper
NM_005491.5
p.P357L
c.1070C>T
7 papers
NM_005491.5
p.P359S
c.1075C>T
NM_001177465.3
p.P334S
c.1000C>T
1 paper
NM_005491.5
p.P326A
c.976C>G
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