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

2 papers

NM_000051.4

p.S837S

c.2511A>G

Surrounding Variants

2 papers

NM_000051.4

p.M838V

c.2512A>G

2 papers

NM_000051.4

p.S837*

c.2510C>A

2 papers

NM_000051.4

p.S837*

c.2510C>G

1 paper

NM_000051.4

p.S837L

c.2510C>T

1 paper

NM_000051.4

p.S837P

c.2509T>C

1 paper

NM_000051.4

p.S837fs

c.2509_2510fs

1 paper

NM_000051.4

p.S837fs

c.2509_2510fs

1 paper

NM_000051.4

p.E836E

c.2508A>G

1 paper

NM_000051.4

p.E836A

c.2507A>C

2 papers

NM_000051.4

p.E839K

c.2515G>A

3 papers

NM_000051.4

p.E836K

c.2506G>A

1 paper

NM_000051.4

p.E836Q

c.2506G>C