Varaico: Literature-Extracted Genetic Variants

Gene:ATM

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair
TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair
FATaa 2096–2489UCSCFAT domain
PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase
FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers
RefSeq ID
Protein change
DNA change
1–12 of 14206 variants
323 papers
NM_000051.4
p.V2424G
c.7271T>G
310 papers
NM_000051.4
p.D1853N
c.5557G>A
202 papers
NM_000051.4
p.F858L
c.2572T>C
186 papers
NM_000051.4
p.P1054R
c.3161C>G
183 papers
NM_000051.4
p.E1978*
c.5932G>T
177 papers
NM_000051.4
p.F858L
c.2574T>A
177 papers
NM_000051.4
p.F858L
c.2574T>G
173 papers
NM_000051.4
p.R3008C
c.9022C>T
152 papers
NM_000051.4
p.R3008H
c.9023G>A
150 papers
NM_000051.4
p.R337C
c.1009C>T
135 papers
NM_000051.4
p.S49C
c.146C>G
131 papers
NM_000051.4
p.S707P
c.2119T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."