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.L121L

c.361T>C

Surrounding Variants

2 papers

NM_000051.4

p.L121I

c.361T>A

1 paper

NM_000051.4

p.L121delFs

c.362delT

1 paper

NM_000051.4

p.L121_N122delFs

c.361_365del5

8 papers

NM_000051.4

p.L121*

c.362T>A

1 paper

NM_000051.4

p.L121S

c.362T>C

6 papers

NM_000051.4

p.L121*

c.362T>G

1 paper

NM_000051.4

p.L121delFs

c.363delA

1 paper

NM_000051.4

p.L121F

c.363A>C

1 paper

NM_000051.4

p.L121F

c.363A>T

1 paper

NM_000051.4

p.L120P

c.359T>C

2 papers

NM_000051.4

p.L120R

c.359T>G

2 papers

NM_000051.4

p.N122H

c.364A>C