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.F523L

c.1569C>G

Surrounding Variants

1 paper

NM_000051.4

p.F523L

c.1569C>A

1 paper

NM_000051.4

p.W524R

c.1570T>A

1 paper

NM_000051.4

p.F523S

c.1568T>C

1 paper

NM_000051.4

p.W524R

c.1570T>C

1 paper

NM_000051.4

p.F523C

c.1568T>G

1 paper

NM_000051.4

p.W524G

c.1570T>G

1 paper

NM_000051.4

p.W524fs

c.1570_1571fs

1 paper

NM_000051.4

p.W524delFs

c.1572delG

5 papers

NM_000051.4

p.W524*

c.1571G>A

1 paper

NM_000051.4

p.F523L

c.1567T>C

2 papers

NM_000051.4

p.F523V

c.1567T>G

1 paper

NM_000051.4

p.E522E

c.1566A>G