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.D661N

c.1981G>A

Surrounding Variants

1 paper

NM_000051.4

p.D661fs

c.1981_1982fs

1 paper

NM_000051.4

p.D661A

c.1982A>C

2 papers

NM_000051.4

p.D661G

c.1982A>G

1 paper

NM_000051.4

p.M660I

c.1980G>A

1 paper

NM_000051.4

p.L663insFs

c.1988dupT

1 paper

NM_000051.4

p.M660K

c.1979T>A

1 paper

NM_000051.4

p.M660fs

c.1978_1979fs

3 papers

NM_000051.4

p.M660fs

c.1978_1979fs

1 paper

NM_000051.4

p.F662I

c.1984T>A

4 papers

NM_000051.4

p.K659N

c.1977G>C

4 papers

NM_000051.4

p.K659N

c.1977G>T

2 papers

NM_000051.4

p.M660delFs

c.1978delA