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.L615L

c.1845C>T

Surrounding Variants

1 paper

NM_000051.4

p.T616del1

c.1846_1847delACT

1 paper

NM_000051.4

p.T616fs

c.1846_1847fs

1 paper

NM_000051.4

p.T616P

c.1846A>C

6 papers

NM_000051.4

p.T616A

c.1846A>G

3 papers

NM_000051.4

p.T616S

c.1846A>T

6 papers

NM_000051.4

p.L615P

c.1844T>C

3 papers

NM_000051.4

p.T616S

c.1847C>G

3 papers

NM_000051.4

p.L615F

c.1843C>T

2 papers

NM_000051.4

p.T616I

c.1847C>T

2 papers

NM_000051.4

p.S614R

c.1842T>A

1 paper

NM_000051.4

p.T616T

c.1848T>C

2 papers

NM_000051.4

p.S614R

c.1842T>G