Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.M432K

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.M432K
c.1295T>A
Surrounding Variants
5 papers
NM_005491.5
p.M432T
c.1295T>C
1 paper
NM_005491.5
p.K437E
c.1309A>G
1 paper
NM_005491.5
p.P439L
c.1316C>T
2 papers
NM_001177465.3
p.A421P
c.1261G>C
NM_005491.5
p.A446P
c.1336G>C
2 papers
NM_005491.5
p.P456S
c.1366C>T
1 paper
NM_005491.5
p.Y458delFs
c.1374delT
1 paper
NM_005491.5
p.A398T
c.1192G>A
1 paper
NM_005491.5
p.L468_P469ins1
c.1404_1405insCAG
1 paper
NM_005491.5
p.P469del1
c.1405_1407delCCA
1 paper
NM_005491.5
p.T392R
c.1175C>G
1 paper
NM_005491.5
p.S472S
c.1416C>T
1 paper
NM_005491.5
p.Q476_C477ins0
c.1428_1430dupGTG
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