Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2
Variant:p.S344C

DYNC2I2

78 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

WD40aa 383–421UCSCWD domain, G-beta repeat
WD40aa 473–511UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

dynein 2 intermediate chain 2

HGNC Previous Symbol

WDR34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052844.4
p.S344C
c.1030A>T
Surrounding Variants
4 papers
NM_052844.4
p.A341V
c.1022C>T
2 papers
NM_052844.4
p.G336G
c.1008C>T
1 paper
NM_052844.4
p.T354A
c.1060A>G
4 papers
NM_052844.4
p.T354M
c.1061C>T
2 papers
NM_052844.4
p.G356S
c.1066G>A
1 paper
NM_052844.4
p.G331R
c.991G>A
1 paper
NM_052844.4
p.P359L
c.1076C>T
1 paper
NM_052844.4
p.L360P
c.1079T>C
2 papers
NM_052844.4
p.K327_H328Splc
c.982-2A>C
1 paper
NM_052844.4
p.T372T
c.1116G>A
1 paper
NM_052844.4
p.A384V
c.1151C>T
1 paper
NM_052844.4
p.F388L
c.1162T>C
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