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

38 papers

NM_000051.4

p.G301Splc

c.901+1G>A

Surrounding Variants

1 paper

NM_000051.4

p.G301A

c.902G>C

6 papers

NM_000051.4

p.G301Splc

c.901+1G>T

9 papers

NM_000051.4

p.G301S

c.901G>A

3 papers

NM_000051.4

p.G301R

c.901G>C

7 papers

NM_000051.4

p.G301C

c.901G>T

2 papers

NM_000051.4

p.G301Splc

c.901+2T>A

4 papers

NM_000051.4

p.G301Splc

c.901+2T>C

1 paper

NM_000051.4

p.G301Splc

c.901+2T>G

1 paper

NM_000051.4

p.K300K

c.900A>G

4 papers

NM_000051.4

p.G301Splc

c.901+3A>T

1 paper

NM_000051.4

p.K300*

c.898A>T

1 paper

NM_000051.4

p.E299D

c.897A>C