Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_000051.4

p.C669*

c.2007T>A

Surrounding Variants

1 paper

NM_000051.4

p.G670D

c.2009G>A

1 paper

NM_000051.4

p.G670insFs

c.2010dupT

2 papers

NM_000051.4

p.I671insFs

c.2012_2013dupTA

1 paper

NM_000051.4

p.C669R

c.2005T>C

6 papers

NM_000051.4

p.I671V

c.2011A>G

1 paper

NM_000051.4

p.E668V

c.2003A>T

1 paper

NM_000051.4

p.E668*

c.2002G>T

5 papers

NM_000051.4

p.I671K

c.2012T>A

1 paper

NM_000051.4

p.I671T

c.2012T>C

4 papers

NM_000051.4

p.E672Q

c.2014G>C

2 papers

NM_000051.4

p.R667T

c.2000G>C

1 paper

NM_000051.4

p.E672_K673insA

c.2014_2018ins3