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

48 papers

NM_000051.4

p.K1904insFs

c.5712dupA

Surrounding Variants

2 papers

NM_000051.4

p.K1904delFs

c.5712delA

3 papers

NM_000051.4

p.K1903fs

c.5707_5708fs

1 paper

NM_000051.4

p.K1903Q

c.5707A>C

3 papers

NM_000051.4

p.D1902G

c.5705A>G

1 paper

NM_000051.4

p.D1902delins

c.5705_5706delinsGG

1 paper

NM_000051.4

p.K1904_S1905del2

c.5710_5714del6

1 paper

NM_000051.4

p.D1902N

c.5704G>A

2 papers

NM_000051.4

p.D1902fs

c.5704_5705fs

1 paper

NM_000051.4

p.D1902Y

c.5704G>T

1 paper

NM_000051.4

p.D1902delFs

c.5705delA

2 papers

NM_000051.4

p.D1902fs

c.5704_5705fs

1 paper

NM_000051.4

p.K1904_M1909delFs

c.5712_5725del14