Varaico: Literature-Extracted Genetic Variants

Gene:DPY19L2
Variant:p.K680*

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
7 papers
NM_173812.5
p.K680*
c.2038A>T
Surrounding Variants
1 paper
NM_173812.5
p.V673A
c.2018T>C
1 paper
NM_173812.5
p.D687insFs
c.2061dupT
1 paper
NM_173812.5
p.V698delFs
c.2092delC
1 paper
NM_173812.5
p.V705F
c.2113G>T
2 papers
NM_173812.5
p.K709Splc
c.2126+5G>A
1 paper
NM_173812.5
p.A664V
c.1991C>T
7 papers
NM_173812.5
p.I647V
c.1939A>G
3 papers
NM_173812.5
p.S646S
c.1938C>T
1 paper
NM_173812.5
p.A645S
c.1933G>T
1 paper
NM_173812.5
p.D634fs
c.1900_1901fs
1 paper
NM_173812.5
p.N728delFs
c.2184delG
1 paper
NM_173812.5
p.P741T
c.2221C>A
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