Varaico: Literature-Extracted Genetic Variants

Gene:DPY19L2
Variant:p.R298C

DPY19L2

108 papers

RefSeq Summary

The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in t...

Pfam Domains

Dpy19aa 114–757UCSCQ-cell neuroblast polarisation

Gene Aliases

HGNC Name

dpy-19 like 2

HGNC Alias Symbols

FLJ32949; SPATA34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_173812.5
p.R298C
c.892C>T
Surrounding Variants
1 paper
NM_173812.5
p.R298H
c.893G>A
1 paper
NM_173812.5
p.W293*
c.878G>A
13 papers
NM_173812.5
p.R290H
c.869G>A
1 paper
NM_173812.5
p.Q309K
c.925C>A
1 paper
NM_173812.5
p.R318fs
c.952_953fs
1 paper
NM_173812.5
p.E287_A288Splc
c.862-45T>A
1 paper
NM_173812.5
p.R318Splc
c.953+16A>G
1 paper
NM_173812.5
p.S268Splc
c.804-15G>T
1 paper
NM_173812.5
p.I328T
c.983T>C
1 paper
NM_173812.5
p.L330F
c.988C>T
4 papers
NM_173812.5
p.L330P
c.989T>C
1 paper
NM_173812.5
p.V335_A336del2
c.1003_1007del6
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