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.D351E

c.1053T>A

Surrounding Variants

1 paper

NM_000051.4

p.D351E

c.1053T>G

1 paper

NM_000051.4

p.I352insFs

c.1055_1056insT

3 papers

NM_000051.4

p.D351V

c.1052A>T

1 paper

NM_000051.4

p.I352F

c.1054A>T

1 paper

NM_000051.4

p.I352fs

c.1054_1055fs

4 papers

NM_000051.4

p.D351N

c.1051G>A

1 paper

NM_000051.4

p.D351H

c.1051G>C

1 paper

NM_000051.4

p.D351Y

c.1051G>T

1 paper

NM_000051.4

p.I352delFs

c.1054_1055delAT

2 papers

NM_000051.4

p.I352N

c.1055T>A

10 papers

NM_000051.4

p.I352T

c.1055T>C

3 papers

NM_000051.4

p.A350A

c.1050A>G