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.L146F

c.436C>T

Surrounding Variants

1 paper

NM_000051.4

p.L146_K147insA

c.436_440ins3

1 paper

NM_000051.4

p.L146_K147delFs

c.437_440del4

1 paper

NM_000051.4

p.K147_R153insFs

c.439_457dup19

1 paper

NM_000051.4

p.L146L

c.438C>G

2 papers

NM_000051.4

p.L145Q

c.434T>A

2 papers

NM_000051.4

p.L145P

c.434T>C

8 papers

NM_000051.4

p.L145R

c.434T>G

2 papers

NM_000051.4

p.K147E

c.439A>G

1 paper

NM_000051.4

p.L145I

c.433C>A

2 papers

NM_000051.4

p.L145fs

c.433_434fs

1 paper

NM_000051.4

p.L145V

c.433C>G

2 papers

NM_000051.4

p.L145L

c.433C>T