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.E522E

c.1566A>G

Surrounding Variants

1 paper

NM_000051.4

p.F523L

c.1567T>C

2 papers

NM_000051.4

p.F523V

c.1567T>G

3 papers

NM_000051.4

p.E522K

c.1564G>A

2 papers

NM_000051.4

p.E522Q

c.1564G>C

23 papers

NM_000051.4

p.E522fs

c.1564_1565fs

8 papers

NM_000051.4

p.E522*

c.1564G>T

33 papers

NM_000051.4

p.E522fs

c.1564_1565fs

1 paper

NM_000051.4

p.F523S

c.1568T>C

1 paper

NM_000051.4

p.F523C

c.1568T>G

1 paper

NM_000051.4

p.E522delFs

c.1564delG

1 paper

NM_000051.4

p.E522_F523del2

c.1564_1568del6

1 paper

NM_000051.4

p.F523L

c.1569C>A