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.L3017R

c.9050T>G

Surrounding Variants

1 paper

NM_000051.4

p.L3017Q

c.9050T>A

3 papers

NM_000051.4

p.L3017P

c.9050T>C

1 paper

NM_000051.4

p.L3017V

c.9049C>G

2 papers

NM_000051.4

p.K3018Q

c.9052A>C

2 papers

NM_000051.4

p.K3016R

c.9047A>G

2 papers

NM_000051.4

p.K3016I

c.9047A>T

4 papers

NM_000051.4

p.K3016Q

c.9046A>C

3 papers

NM_000051.4

p.K3018N

c.9054A>C

2 papers

NM_000051.4

p.K3016E

c.9046A>G

1 paper

NM_000051.4

p.K3018K

c.9054A>G

3 papers

NM_000051.4

p.K3018N

c.9054A>T

1 paper

NM_000051.4

p.K3016fs

c.9046_9047fs