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.L442L

c.1326T>G

Surrounding Variants

1 paper

NM_000051.4

p.L442L

c.1326T>A

1 paper

NM_000051.4

p.L443I

c.1327C>A

3 papers

NM_000051.4

p.L442P

c.1325T>C

2 papers

NM_000051.4

p.L442F

c.1324C>T

1 paper

NM_000051.4

p.L443Q

c.1328T>A

2 papers

NM_000051.4

p.P444insFs

c.1330_1331insCC

2 papers

NM_000051.4

p.Q445delFs

c.1333delC

1 paper

NM_000051.4

p.P444S

c.1330C>T

1 paper

NM_000051.4

p.Q441E

c.1321C>G

5 papers

NM_000051.4

p.Q441*

c.1321C>T

4 papers

NM_000051.4

p.Q441fs

c.1321_1322fs

1 paper

NM_000051.4

p.P444P

c.1332C>A