Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I2
Variant:p.R447W

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
6 papers
NM_052844.4
p.R447W
c.1339C>T
Surrounding Variants
1 paper
NM_052844.4
p.R447L
c.1340G>T
4 papers
NM_052844.4
p.R447Q
c.1340G>A
2 papers
NM_052844.4
p.L438delFs
c.1312_1313delAG
2 papers
NM_052844.4
p.Y437C
c.1310A>G
3 papers
NM_052844.4
p.K436R
c.1307A>G
2 papers
NM_052844.4
p.G458Splc
c.1372+1G>A
1 paper
NM_052844.4
p.G458Splc
c.1372+2T>C
1 paper
NM_052844.4
p.Q432E
c.1294C>G
1 paper
NM_052844.4
p.L428V
c.1282T>G
1 paper
NM_052844.4
p.Q424*
c.1270C>T
1 paper
NM_052844.4
p.D414G
c.1241A>G
3 papers
NM_052844.4
p.S410I
c.1229G>T
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