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.S865R

c.2595T>A

Surrounding Variants

1 paper

NM_000051.4

p.S865S

c.2595T>C

1 paper

NM_000051.4

p.S865R

c.2595T>G

1 paper

NM_000051.4

p.V866F

c.2596G>T

1 paper

NM_000051.4

p.V866_D868del3

c.2596_2603del9

1 paper

NM_000051.4

p.S865R

c.2593A>C

1 paper

NM_000051.4

p.V866A

c.2597T>C

1 paper

NM_000051.4

p.V866G

c.2597T>G

1 paper

NM_000051.4

p.S867insFs

c.2599_2600insGT

2 papers

NM_000051.4

p.S867fs

c.2599_2600fs

2 papers

NM_000051.4

p.S864delFs

c.2591delG

2 papers

NM_000051.4

p.S864fs

c.2590_2591fs

1 paper

NM_000051.4

p.S867T

c.2600G>C