Varaico: Literature-Extracted Genetic Variants

Gene:DPY19L2
Variant:p.N424delFs

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.N424delFs
c.1271delT
Surrounding Variants
1 paper
NM_173812.5
p.W426S
c.1277G>C
2 papers
NM_173812.5
p.R412fs
c.1234_1235fs
1 paper
NM_173812.5
p.R412delFs
c.1235delC
1 paper
NM_173812.5
p.R412delFs
c.1234delT
1 paper
NM_173812.5
p.R412fs
c.1234_1235fs
1 paper
NM_173812.5
p.Q429*
c.1285C>T
1 paper
NM_173812.5
p.I447I
c.1341C>A
1 paper
NM_173812.5
p.V450G
c.1349T>G
2 papers
NM_173812.5
p.W406_A407Splc
c.1218+73T>C
3 papers
NM_173812.5
p.W406_A407Splc
c.1218+22T>C
5 papers
NM_173812.5
p.W406_A407Splc
c.1218+1G>A
1 paper
NM_173812.5
p.T405T
c.1215G>A
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