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.I289S

c.866T>G

Surrounding Variants

3 papers

NM_000051.4

p.I289T

c.866T>C

1 paper

NM_000051.4

p.I289_K300delFs

c.867_898del32

3 papers

NM_000051.4

p.I289L

c.865A>C

1 paper

NM_000051.4

p.I289V

c.865A>G

1 paper

NM_000051.4

p.I289_H290del1

c.866_868delTCC

1 paper

NM_000051.4

p.I289M

c.867C>G

1 paper

NM_000051.4

p.I289I

c.867C>T

1 paper

NM_000051.4

p.H290_K293del4

c.868_878del12

4 papers

NM_000051.4

p.H290Y

c.868C>T

2 papers

NM_000051.4

p.Y288*

c.864T>A

2 papers

NM_000051.4

p.Y288*

c.864T>G

1 paper

NM_000051.4

p.H290insFs

c.869_870insT