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

23 papers

NM_000051.4

p.R451C

c.1351C>T

Surrounding Variants

2 papers

NM_000051.4

p.E450D

c.1350A>C

2 papers

NM_000051.4

p.E450D

c.1350A>T

12 papers

NM_000051.4

p.R451H

c.1352G>A

1 paper

NM_000051.4

p.E450A

c.1349A>C

1 paper

NM_000051.4

p.E450G

c.1349A>G

1 paper

NM_000051.4

p.E450V

c.1349A>T

8 papers

NM_000051.4

p.T452fs

c.1354_1355fs

3 papers

NM_000051.4

p.T452A

c.1354A>G

11 papers

NM_000051.4

p.T452delFs

c.1355delC

7 papers

NM_000051.4

p.T452fs

c.1354_1355fs

2 papers

NM_000051.4

p.E450K

c.1348G>A

1 paper

NM_000051.4

p.E450Q

c.1348G>C