Varaico: Literature-Extracted Genetic Variants

Gene:DIPK1A
Variant:p.T49A

DIPK1A

26 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. Alternati...

Pfam Domains

PIP49_Naa 3–131UCSCN-term cysteine-rich ER, FAM69
PIP49_Naa 19–134UCSCN-term cysteine-rich ER, FAM69
PIP49_Caa 149–351UCSCProtein-kinase domain of FAM69

Gene Aliases

HGNC Name

divergent protein kinase domain 1A

HGNC Previous Symbol

FAM69A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001006605.5
p.T49A
c.145A>G
Surrounding Variants
1 paper
NM_001006605.5
p.F37L
c.111T>G
1 paper
NM_001006605.5
p.F37L
c.111T>A
1 paper
NM_001006605.5
p.F37L
c.109T>C
1 paper
NM_001006605.5
p.R20H
c.59G>A
1 paper
NM_001006605.5
p.R20C
c.58C>T
1 paper
NM_001006605.5
p.Q18_A19Splc
c.55-903G>A
1 paper
NM_001006605.5
p.Q18_A19Splc
c.55-4332A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."