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.S794R

c.2380A>C

Surrounding Variants

1 paper

NM_000051.4

p.K793N

c.2379G>C

1 paper

NM_000051.4

p.K793N

c.2379G>T

1 paper

NM_000051.4

p.K793R

c.2378A>G

1 paper

NM_000051.4

p.S794R

c.2382T>A

1 paper

NM_000051.4

p.S794R

c.2382T>G

1 paper

NM_000051.4

p.P795delFs

c.2384delC

1 paper

NM_000051.4

p.P795_G801del7

c.2383_2402del21

1 paper

NM_000051.4

p.K793Q

c.2377A>C

3 papers

NM_000051.4

p.K793E

c.2377A>G

1 paper

NM_000051.4

p.K793fs

c.2377_2378fs

2 papers

NM_000051.4

p.P795T

c.2383C>A

2 papers

NM_000051.4

p.P795S

c.2383C>T