Varaico: Literature-Extracted Genetic Variants

Gene:MLXIP
Variant:p.V449M

MLXIP

64 papers

RefSeq Summary

This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation o...

Pfam Domains

HLHaa 720–770UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

MLX interacting protein

HGNC Alias Symbols

MONDOA; KIAA0867; bHLHe36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014938.6
p.V449M
c.1345G>A
Surrounding Variants
1 paper
NM_014938.6
p.I446L
c.1336A>C
1 paper
NM_014938.6
p.P456A
c.1366C>G
1 paper
NM_014938.6
p.T458P
c.1372A>C
2 papers
NM_014938.6
p.P481L
c.1442C>T
1 paper
NM_014938.6
p.T487M
c.1460C>T
1 paper
NM_014938.6
p.T487T
c.1461G>A
5 papers
NM_014938.6
p.E396G
c.1187A>G
1 paper
NM_014938.6
p.L507F
c.1519C>T
1 paper
NM_014938.6
p.E365D
c.1095G>C
1 paper
NM_014938.6
p.E365D
c.1095G>T
1 paper
NM_014938.6
p.Q553*
c.1657C>T
1 paper
NM_014938.6
p.P554L
c.1661C>T
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