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.N765fs

c.2293_2294fs

Surrounding Variants

1 paper

NM_000051.4

p.N765delFs

c.2295delT

1 paper

NM_000051.4

p.K766insFs

c.2297_2298insA

1 paper

NM_000051.4

p.K766delFs

c.2296_2297delAA

1 paper

NM_000051.4

p.K766_N768delFs

c.2298_2302del5

1 paper

NM_000051.4

p.K764fs

c.2290_2291fs

1 paper

NM_000051.4

p.K766Q

c.2296A>C

2 papers

NM_000051.4

p.K764E

c.2290A>G

1 paper

NM_000051.4

p.K766E

c.2296A>G

1 paper

NM_000051.4

p.K764*

c.2290A>T

42 papers

NM_000051.4

p.F763L

c.2289T>A

1 paper

NM_000051.4

p.F763F

c.2289T>C

36 papers

NM_000051.4

p.F763L

c.2289T>G