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

1 paper

NM_000051.4

p.Y2852H

c.8554T>C

Surrounding Variants

1 paper

NM_000051.4

p.Y2852C

c.8555A>G

2 papers

NM_000051.4

p.A2851V

c.8552C>T

1 paper

NM_000051.4

p.T2853fs

c.8557_8558fs

1 paper

NM_000051.4

p.T2853P

c.8557A>C

2 papers

NM_000051.4

p.T2853A

c.8557A>G

7 papers

NM_000051.4

p.T2853R

c.8558C>G

21 papers

NM_000051.4

p.T2853M

c.8558C>T

3 papers

NM_000051.4

p.L2850F

c.8550G>C

3 papers

NM_000051.4

p.L2850F

c.8550G>T

1 paper

NM_000051.4

p.T2853T

c.8559G>A

9 papers

NM_000051.4

p.L2850*

c.8549T>A

5 papers

NM_000051.4

p.L2850S

c.8549T>C