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

3 papers

NM_000051.4

p.L3delFs

c.8delT

Surrounding Variants

1 paper

NM_000051.4

p.L3insFs

c.7_8insG

2 papers

NM_000051.4

p.L3fs

c.7_8fs

3 papers

NM_000051.4

p.L3insFs

c.8_9insT

1 paper

NM_000051.4

p.L3V

c.7C>G

2 papers

NM_000051.4

p.L3L

c.7C>T

1 paper

NM_000051.4

p.L3Fs

c.7delinsTGGGTAGGGFs

3 papers

NM_000051.4

p.S2R

c.6T>A

1 paper

NM_000051.4

p.L3Q

c.8T>A

9 papers

NM_000051.4

p.L3P

c.8T>C

2 papers

NM_000051.4

p.S2S

c.6T>C

16 papers

NM_000051.4

p.S2R

c.6T>G

1 paper

NM_000051.4

p.L3insFs

c.9dupA