Varaico: Literature-Extracted Genetic Variants

Gene:MAMLD1
Variant:p.G377G

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.G377G
c.1131T>G
Surrounding Variants
1 paper
NM_005491.5
p.S378N
c.1133G>A
3 papers
NM_005491.5
p.R381*
c.1141C>T
NM_001177465.3
p.R356*
c.1066C>T
2 papers
NM_001177465.3
p.S347S
c.1041C>A
4 papers
NM_001177465.3
p.P359S
c.1075C>T
NM_005491.5
p.P384S
c.1150C>T
1 paper
NM_005491.5
p.S371L
c.1112C>T
9 papers
NM_005491.5
p.P384L
c.1151C>T
NM_001177465.3
p.P359L
c.1076C>T
1 paper
NM_005491.5
p.L387insFs
c.1160_1161insT
1 paper
NM_005491.5
p.L365fs
c.1093_1094fs
1 paper
NM_005491.5
p.T392R
c.1175C>G
7 papers
NM_005491.5
p.P359S
c.1075C>T
NM_001177465.3
p.P334S
c.1000C>T
1 paper
NM_005491.5
p.P357L
c.1070C>T
1 paper
NM_005491.5
p.A398T
c.1192G>A
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