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.F2410S

c.7229T>C

Surrounding Variants

9 papers

NM_000051.4

p.F2410L

c.7230T>A

9 papers

NM_000051.4

p.F2410L

c.7228T>C

9 papers

NM_000051.4

p.F2410L

c.7230T>G

1 paper

NM_000051.4

p.E2411_N2412del2

c.7231_7235del6

1 paper

NM_000051.4

p.F2410fs

c.7228_7229fs

1 paper

NM_000051.4

p.F2410delFs

c.7230delT

2 papers

NM_000051.4

p.E2411K

c.7231G>A

1 paper

NM_000051.4

p.E2411Q

c.7231G>C

1 paper

NM_000051.4

p.E2409K

c.7225G>A

3 papers

NM_000051.4

p.E2409*

c.7225G>T

1 paper

NM_000051.4

p.E2409fs

c.7225_7226fs

1 paper

NM_000051.4

p.N2412insFs

c.7234_7235insG