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.L572insFs

c.1716dupA

Surrounding Variants

1 paper

NM_000051.4

p.L572S

c.1715T>C

1 paper

NM_000051.4

p.K573delFs

c.1718delA

1 paper

NM_000051.4

p.K573_S575delFs

c.1717_1724del8

1 paper

NM_000051.4

p.K573fs

c.1717_1718fs

1 paper

NM_000051.4

p.K573fs

c.1717_1718fs

1 paper

NM_000051.4

p.L572_E574del3

c.1714_1721del9

3 papers

NM_000051.4

p.S571Y

c.1712C>A

1 paper

NM_000051.4

p.S571C

c.1712C>G

2 papers

NM_000051.4

p.S571F

c.1712C>T

2 papers

NM_000051.4

p.S571delFs

c.1713delT

1 paper

NM_000051.4

p.K573K

c.1719G>A

1 paper

NM_000051.4

p.E574_S575del2

c.1720_1724del6