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

124 papers

NM_000051.4

p.V2716A

c.8147T>C

Surrounding Variants

5 papers

NM_000051.4

p.V2716F

c.8146G>T

1 paper

NM_000051.4

p.V2716fs

c.8146_8147fs

2 papers

NM_000051.4

p.K2717Q

c.8149A>C

5 papers

NM_000051.4

p.K2717T

c.8150A>C

6 papers

NM_000051.4

p.K2717R

c.8150A>G

2 papers

NM_000051.4

p.K2717M

c.8150A>T

3 papers

NM_000051.4

p.K2717_G2718Splc

c.8151+1G>A

2 papers

NM_000051.4

p.K2717_G2718Splc

c.8151+1G>T

1 paper

NM_000051.4

p.Q2714R

c.8141A>G

1 paper

NM_000051.4

p.K2717_G2718Splc

c.8151+2T>C

1 paper

NM_000051.4

p.Q2714K

c.8140C>A

2 papers

NM_000051.4

p.Q2714E

c.8140C>G