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

3 papers

NM_000051.4

p.L8insFs

c.23_24insT

Surrounding Variants

1 paper

NM_000051.4

p.L8M

c.22C>A

1 paper

NM_000051.4

p.L8V

c.22C>G

1 paper

NM_000051.4

p.L8L

c.22C>T

1 paper

NM_000051.4

p.L8delFs

c.23delT

2 papers

NM_000051.4

p.D7E

c.21T>A

1 paper

NM_000051.4

p.L8insFs

c.22_23insGC

1 paper

NM_000051.4

p.D7_L8insFs

c.21_22insGC

1 paper

NM_000051.4

p.L8_I10delFs

c.24_28del5

1 paper

NM_000051.4

p.D7insFs

c.20_21insG

3 papers

NM_000051.4

p.D7insFs

c.20_21insT

4 papers

NM_000051.4

p.D7G

c.20A>G

1 paper

NM_000051.4

p.L8delFs

c.22_23delCT