Varaico: Literature-Extracted Genetic Variants

Gene:DPY19L2
Variant:p.K511delFs

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
5 papers
NM_173812.5
p.K511delFs
c.1532delT
Surrounding Variants
1 paper
NM_173812.5
p.K511_T512Splc
c.1533+1G>A
6 papers
NM_173812.5
p.T493R
c.1478C>G
1 paper
NM_173812.5
p.A487_T488Splc
c.1462-1G>T
1 paper
NM_173812.5
p.A487A
c.1461G>A
1 paper
NM_173812.5
p.Y518delFs
c.1553_1554delAT
1 paper
NM_173812.5
p.E480K
c.1438G>A
2 papers
NM_173812.5
p.R527Splc
c.1580+1G>A
1 paper
NM_173812.5
p.V450G
c.1349T>G
1 paper
NM_173812.5
p.I447I
c.1341C>A
1 paper
NM_173812.5
p.Q429*
c.1285C>T
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