Varaico: Literature-Extracted Genetic Variants

Gene:DIPK1B
Variant:p.A192V

DIPK1B

33 papers

RefSeq Summary

This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided...

Pfam Domains

PIP49_Naa 22–179UCSCN-term cysteine-rich ER, FAM69
PIP49_Caa 197–399UCSCProtein-kinase domain of FAM69

Gene Aliases

HGNC Name

divergent protein kinase domain 1B

HGNC Previous Symbol

FAM69B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152421.4
p.A192V
c.575C>T
Surrounding Variants
1 paper
NM_152421.4
p.S196F
c.587C>T
1 paper
NM_152421.4
p.N187K
c.561C>A
1 paper
NM_152421.4
p.N187K
c.561C>G
1 paper
NM_152421.4
p.E214del1
c.640_641delGAG
1 paper
NM_152421.4
p.P235P
c.705G>A
1 paper
NM_152421.4
p.A238T
c.712G>A
1 paper
NM_152421.4
p.L279M
c.835C>A
1 paper
NM_152421.4
p.M295T
c.884T>C
1 paper
NM_152421.4
p.A314V
c.941C>T
1 paper
NM_152421.4
p.E322K
c.964G>A
1 paper
NM_152421.4
p.T324I
c.971C>T
1 paper
NM_152421.4
p.R332R
c.996C>T
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