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

2 papers

NM_000051.4

p.S305*

c.914C>A

Surrounding Variants

2 papers

NM_000051.4

p.S305*

c.914C>G

1 paper

NM_000051.4

p.T306_K307delFs

c.917_920del4

1 paper

NM_000051.4

p.S305P

c.913T>C

1 paper

NM_000051.4

p.E304G

c.911A>G

2 papers

NM_000051.4

p.T306R

c.917C>G

2 papers

NM_000051.4

p.K307delFs

c.920_921delAA

2 papers

NM_000051.4

p.E304*

c.910G>T

1 paper

NM_000051.4

p.E304delFs

c.911delA

1 paper

NM_000051.4

p.K307fs

c.919_920fs

2 papers

NM_000051.4

p.Y303*

c.909T>A

2 papers

NM_000051.4

p.Y303*

c.909T>G

1 paper

NM_000051.4

p.Y303S

c.908A>C