Varaico: Literature-Extracted Genetic Variants

Gene:PRRC2A
Variant:p.R934H

PRRC2A

196 papers

RefSeq Summary

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This ...

Pfam Domains

BAT2_Naa 1–189UCSCBAT2 N-terminus

Gene Aliases

HGNC Name

proline rich coiled-coil 2A

HGNC Previous Symbol

BAT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004638.4
p.R934H
c.2801G>A
Surrounding Variants
1 paper
NM_004638.4
p.E940V
c.2819A>T
1 paper
NM_004638.4
p.W926S
c.2777G>C
1 paper
NM_004638.4
p.G943E
c.2828G>A
1 paper
NM_004638.4
p.R925L
c.2774G>T
1 paper
NM_004638.4
p.R948W
c.2842C>T
1 paper
NM_004638.4
p.P951T
c.2851C>A
1 paper
NM_004638.4
p.R917H
c.2750G>A
1 paper
NM_004638.4
p.G912insFs
c.2736dupC
2 papers
NM_004638.4
p.G912fs
c.2734_2735fs
1 paper
NM_004638.4
p.Q971E
c.2911C>G
1 paper
NM_004638.4
p.E897Q
c.2689G>C
3 papers
NM_004638.4
p.E974Q
c.2920G>C
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