Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.T104T

CHMP2B

295 papers

RefSeq Summary

This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCR...

Pfam Domains

Snf7aa 16–186UCSCSnf7

Gene Aliases

HGNC Name

charged multivesicular body protein 2B

HGNC Alias Symbols

DKFZP564O123; CHMP2.5; VPS2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_014043.4
p.T104T
c.312T>C
Surrounding Variants
18 papers
NM_014043.4
p.T104N
c.311C>A
14 papers
NM_014043.4
p.T105T
c.315A>T
1 paper
NM_014043.4
p.S103C
c.308C>G
2 papers
NM_014043.4
p.M102V
c.304A>G
1 paper
NM_014043.4
p.K107K
c.321A>G
1 paper
NM_014043.4
p.A99S
c.295G>T
5 papers
NM_014043.4
p.M98I
c.294G>A
1 paper
NM_014043.4
p.M96T
c.287T>C
1 paper
NM_014043.4
p.M96R
c.287T>G
1 paper
NM_014043.4
p.Q95*
c.283C>T
1 paper
NM_014043.4
p.K90_V91ins4
c.268_272ins12
2 papers
NM_014043.4
p.T83I
c.248C>T
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