Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.T761A

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
Selected Variant
2 papers
NM_000051.4
p.T761A
c.2281A>G
Surrounding Variants
5 papers
NM_000051.4
p.T761fs
c.2281_2282fs
8 papers
NM_000051.4
p.T761S
c.2281A>T
28 papers
NM_000051.4
p.L762delFs
c.2284_2285delCT
7 papers
NM_000051.4
p.T761S
c.2282C>G
6 papers
NM_000051.4
p.L762fs
c.2284_2285fs
2 papers
NM_000051.4
p.L762V
c.2284C>G
1 paper
NM_000051.4
p.L762delFs
c.2285_2286delTG
17 papers
NM_000051.4
p.L762fs
c.2284_2285fs
1 paper
NM_000051.4
p.L762R
c.2285T>G
2 papers
NM_000051.4
p.S759N
c.2276G>A
3 papers
NM_000051.4
p.F763delFs
c.2288delT
9 papers
NM_000051.4
p.S759G
c.2275A>G
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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."