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

28 papers

NM_000051.4

p.D2721N

c.8161G>A

Surrounding Variants

2 papers

NM_000051.4

p.D2721H

c.8161G>C

4 papers

NM_000051.4

p.D2721Y

c.8161G>T

2 papers

NM_000051.4

p.D2721G

c.8162A>G

1 paper

NM_000051.4

p.D2721V

c.8162A>T

2 papers

NM_000051.4

p.D2720G

c.8159A>G

2 papers

NM_000051.4

p.D2720V

c.8159A>T

3 papers

NM_000051.4

p.L2722M

c.8164C>A

2 papers

NM_000051.4

p.L2722V

c.8164C>G

10 papers

NM_000051.4

p.D2720N

c.8158G>A

7 papers

NM_000051.4

p.D2720H

c.8158G>C

1 paper

NM_000051.4

p.L2722P

c.8165T>C

5 papers

NM_000051.4

p.L2722R

c.8165T>G