Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.L468_P469ins1

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.L468_P469ins1
c.1404_1405insCAG
Surrounding Variants
1 paper
NM_005491.5
p.P469del1
c.1405_1407delCCA
1 paper
NM_005491.5
p.S472S
c.1416C>T
1 paper
NM_005491.5
p.Q476_C477ins0
c.1428_1430dupGTG
1 paper
NM_005491.5
p.Q476_C477del1
c.1428_1430delGTG
1 paper
NM_005491.5
p.Y458delFs
c.1374delT
1 paper
NM_005491.5
p.S478Y
c.1433C>A
1 paper
NM_005491.5
p.I480T
c.1439T>C
2 papers
NM_005491.5
p.P456S
c.1366C>T
1 paper
NM_005491.5
p.R481*
c.1441C>T
NM_001177465.3
p.R456*
c.1366C>T
1 paper
NM_005491.5
p.L490L
c.1468C>T
2 papers
NM_001177465.3
p.A421P
c.1261G>C
NM_005491.5
p.A446P
c.1336G>C
1 paper
NM_005491.5
p.Q493R
c.1478A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."