Varaico: Literature-Extracted Genetic Variants

Gene:DPY19L2
Variant:p.L618S

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
1 paper
NM_173812.5
p.L618S
c.1853T>C
Surrounding Variants
1 paper
NM_173812.5
p.L618F
c.1854G>T
1 paper
NM_173812.5
p.L618F
c.1854G>C
2 papers
NM_173812.5
p.E614*
c.1840G>T
1 paper
NM_173812.5
p.R606L
c.1817G>T
1 paper
NM_173812.5
p.L605L
c.1815C>T
1 paper
NM_173812.5
p.A603_N604insG
c.1807_1811ins3
1 paper
NM_173812.5
p.D634Splc
c.1900+3G>A
1 paper
NM_173812.5
p.M597I
c.1791G>A
1 paper
NM_173812.5
p.G592delFs
c.1774_1775delCC
3 papers
NM_173812.5
p.R574*
c.1720C>T
1 paper
NM_173812.5
p.P562L
c.1685C>T
3 papers
NM_173812.5
p.T561delFs
c.1681_1682delGT
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