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.S853L

c.2558C>T

Surrounding Variants

3 papers

NM_000051.4

p.S853*

c.2558C>A

2 papers

NM_000051.4

p.S853*

c.2558C>G

3 papers

NM_000051.4

p.S853P

c.2557T>C

1 paper

NM_000051.4

p.S853insFs

c.2557_2558ins4

1 paper

NM_000051.4

p.Q852H

c.2556G>C

1 paper

NM_000051.4

p.Q852H

c.2556G>T

1 paper

NM_000051.4

p.S853_P862delFs

c.2558_2586del29

2 papers

NM_000051.4

p.S854C

c.2561C>G

1 paper

NM_000051.4

p.S854F

c.2561C>T

3 papers

NM_000051.4

p.Q852fs

c.2554_2555fs

30 papers

NM_000051.4

p.Q852*

c.2554C>T

1 paper

NM_000051.4

p.M855insFs

c.2563_2564ins4