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.G449G

c.1347G>T

Surrounding Variants

5 papers

NM_000051.4

p.E450_P453del4

c.1348_1358del12

2 papers

NM_000051.4

p.E450K

c.1348G>A

1 paper

NM_000051.4

p.G449E

c.1346G>A

8 papers

NM_000051.4

p.G449A

c.1346G>C

1 paper

NM_000051.4

p.E450Q

c.1348G>C

2 papers

NM_000051.4

p.E450fs

c.1348_1349fs

3 papers

NM_000051.4

p.E450*

c.1348G>T

1 paper

NM_000051.4

p.E450fs

c.1348_1349fs

1 paper

NM_000051.4

p.E450A

c.1349A>C

1 paper

NM_000051.4

p.E450G

c.1349A>G

1 paper

NM_000051.4

p.E450V

c.1349A>T

2 papers

NM_000051.4

p.G449W

c.1345G>T