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.L2850F

c.8550G>T

Surrounding Variants

3 papers

NM_000051.4

p.L2850F

c.8550G>C

9 papers

NM_000051.4

p.L2850*

c.8549T>A

5 papers

NM_000051.4

p.L2850S

c.8549T>C

2 papers

NM_000051.4

p.A2851V

c.8552C>T

1 paper

NM_000051.4

p.L2850L

c.8548T>C

1 paper

NM_000051.4

p.L2850_A2851delFs

c.8548_8551del4

8 papers

NM_000051.4

p.R2849Q

c.8546G>A

21 papers

NM_000051.4

p.R2849P

c.8546G>C

1 paper

NM_000051.4

p.R2849L

c.8546G>T

1 paper

NM_000051.4

p.Y2852H

c.8554T>C

1 paper

NM_000051.4

p.Y2852C

c.8555A>G

1 paper

NM_000051.4

p.R2849G

c.8545C>G