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.Y2470*

c.7410T>A

Surrounding Variants

1 paper

NM_000051.4

p.Y2470*

c.7410T>G

2 papers

NM_000051.4

p.I2471insFs

c.7411_7412ins4

1 paper

NM_000051.4

p.I2471fs

c.7411_7412fs

4 papers

NM_000051.4

p.Y2470C

c.7409A>G

3 papers

NM_000051.4

p.I2471V

c.7411A>G

1 paper

NM_000051.4

p.Y2470F

c.7409A>T

14 papers

NM_000051.4

p.Y2470D

c.7408T>G

2 papers

NM_000051.4

p.Y2470insFs

c.7409dupA

1 paper

NM_000051.4

p.Y2470_H2480del0

c.7410_7439del30

1 paper

NM_000051.4

p.N2472_E2478del7

c.7414_7433del21

1 paper

NM_000051.4

p.N2472D

c.7414A>G

1 paper

NM_000051.4

p.N2469I

c.7406A>T