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.K1904fs

c.5710_5711fs

Surrounding Variants

2 papers

NM_000051.4

p.K1904fs

c.5710_5711fs

1 paper

NM_000051.4

p.K1904_M1909delFs

c.5712_5725del14

2 papers

NM_000051.4

p.S1905insFs

c.5713_5714insT

1 paper

NM_000051.4

p.K1904_S1905del2

c.5710_5714del6

2 papers

NM_000051.4

p.S1905_L1910del6

c.5713_5729del18

3 papers

NM_000051.4

p.K1903fs

c.5707_5708fs

1 paper

NM_000051.4

p.K1903Q

c.5707A>C

2 papers

NM_000051.4

p.S1905insFs

c.5713_5714insA

6 papers

NM_000051.4

p.S1905fs

c.5713_5714fs

24 papers

NM_000051.4

p.S1905fs

c.5713_5714fs

3 papers

NM_000051.4

p.S1905*

c.5714C>A

2 papers

NM_000051.4

p.S1905*

c.5714C>G