Varaico: Literature-Extracted Genetic Variants

Gene:DPY19L2
Variant:p.R555G

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.R555G
c.1663A>G
Surrounding Variants
1 paper
NM_173812.5
p.M554V
c.1660A>G
1 paper
NM_173812.5
p.A550S
c.1648G>T
2 papers
NM_173812.5
p.L560*
c.1679T>A
5 papers
NM_173812.5
p.L560delFs
c.1679delA
1 paper
NM_173812.5
p.A548V
c.1643C>T
1 paper
NM_173812.5
p.P562A
c.1684C>G
1 paper
NM_173812.5
p.P562L
c.1685C>T
3 papers
NM_173812.5
p.T561delFs
c.1681_1682delGT
3 papers
NM_173812.5
p.R574*
c.1720C>T
1 paper
NM_173812.5
p.K528E
c.1582A>G
1 paper
NM_173812.5
p.G592delFs
c.1774_1775delCC
1 paper
NM_173812.5
p.M597I
c.1791G>A
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