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

2 papers

NM_000051.4

p.D868N

c.2602G>A

Surrounding Variants

1 paper

NM_000051.4

p.D868delFs

c.2603delA

1 paper

NM_000051.4

p.D868A

c.2603A>C

2 papers

NM_000051.4

p.D868G

c.2603A>G

1 paper

NM_000051.4

p.D868V

c.2603A>T

1 paper

NM_000051.4

p.S867S

c.2601T>C

1 paper

NM_000051.4

p.S867T

c.2600G>C

1 paper

NM_000051.4

p.S867insFs

c.2599_2600insGT

2 papers

NM_000051.4

p.S867fs

c.2599_2600fs

1 paper

NM_000051.4

p.A869fs

c.2605_2606fs

1 paper

NM_000051.4

p.A869_N870insT

c.2605_2609ins3

1 paper

NM_000051.4

p.A869delFs

c.2606delC

1 paper

NM_000051.4

p.A869delFs

c.2606_2607delCA