Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.N662S

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
12 papers
NM_005491.5
p.N662S
c.1985A>G
NM_001177465.3
p.Q614_Q615Splc
c.1842+2257A>G
Surrounding Variants
2 papers
NM_005491.5
p.N662K
c.1986C>G
1 paper
NM_005491.5
p.H658Y
c.1972C>T
1 paper
NM_005491.5
p.R667T
c.2000G>C
1 paper
NM_005491.5
p.P672T
c.2014C>A
1 paper
NM_005491.5
p.P672S
c.2014C>T
1 paper
NM_005491.5
p.A651_S652insFs
c.1953_1954insA
1 paper
NM_005491.5
p.S676insFs
c.2026_2027insG
6 papers
NM_005491.5
p.P677L
c.2030C>T
NM_001177465.3
p.Q614_Q615Splc
c.1842+2302C>T
1 paper
NM_005491.5
p.F645I
c.1933T>A
1 paper
NM_005491.5
p.Q639_G640Splc
c.1918-1G>A
3 papers
NM_005491.5
p.Q639_G640Splc
c.1918-2A>G
1 paper
NM_001177465.3
p.M608_L611delFs
c.1822_1831del10
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