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.G327R

c.979G>A

Surrounding Variants

3 papers

NM_000051.4

p.G327R

c.979G>C

1 paper

NM_000051.4

p.G327*

c.979G>T

1 paper

NM_000051.4

p.I326I

c.978A>C

5 papers

NM_000051.4

p.I326M

c.978A>G

1 paper

NM_000051.4

p.G327delFs

c.980delG

4 papers

NM_000051.4

p.G327E

c.980G>A

1 paper

NM_000051.4

p.S328del1

c.982_983delAGT

3 papers

NM_000051.4

p.I326T

c.977T>C

1 paper

NM_000051.4

p.I326R

c.977T>G

2 papers

NM_000051.4

p.I326V

c.976A>G

1 paper

NM_000051.4

p.I326fs

c.976_977fs

1 paper

NM_000051.4

p.S328N

c.983G>A