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

2 papers

NM_000051.4

p.T1284delFs

c.3852delA

Surrounding Variants

2 papers

NM_000051.4

p.T1284K

c.3851C>A

1 paper

NM_000051.4

p.T1284I

c.3851C>T

2 papers

NM_000051.4

p.T1284fs

c.3850_3851fs

6 papers

NM_000051.4

p.T1284fs

c.3850_3851fs

1 paper

NM_000051.4

p.D1285_P1288del4

c.3853_3863del12

2 papers

NM_000051.4

p.L1283L

c.3849A>G

1 paper

NM_000051.4

p.D1285Y

c.3853G>T

19 papers

NM_000051.4

p.L1283P

c.3848T>C

14 papers

NM_000051.4

p.T1284delFs

c.3850delA

4 papers

NM_000051.4

p.L1283fs

c.3847_3848fs

1 paper

NM_000051.4

p.L1283insFs

c.3848dupT

1 paper

NM_000051.4

p.C1286delFs

c.3856delT