Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2
Variant:p.E489V

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.E489V
c.1466A>T
Surrounding Variants
1 paper
NM_052844.4
p.C487W
c.1461T>G
1 paper
NM_052844.4
p.C487S
c.1460G>C
1 paper
NM_052844.4
p.C487S
c.1459T>A
1 paper
NM_052844.4
p.Q494*
c.1480C>T
1 paper
NM_052844.4
p.A500V
c.1499C>T
1 paper
NM_052844.4
p.Q466P
c.1397A>C
4 papers
NM_052844.4
p.T514fs
c.1540_1541fs
2 papers
NM_052844.4
p.T514delFs
c.1541_1542delTG
1 paper
NM_052844.4
p.E518K
c.1552G>A
1 paper
NM_052844.4
p.E523fs
c.1567_1568fs
1 paper
NM_052844.4
p.G458Splc
c.1372+2T>C
2 papers
NM_052844.4
p.G458Splc
c.1372+1G>A
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