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

21 papers

NM_000051.4

p.M1321I

c.3963G>A

Surrounding Variants

21 papers

NM_000051.4

p.M1321I

c.3963G>C

23 papers

NM_000051.4

p.M1321I

c.3963G>T

8 papers

NM_000051.4

p.L1322I

c.3964C>A

5 papers

NM_000051.4

p.L1322F

c.3964C>T

1 paper

NM_000051.4

p.L1322delFs

c.3965_3966delTT

1 paper

NM_000051.4

p.L1322fs

c.3964_3965fs

1 paper

NM_000051.4

p.M1321T

c.3962T>C

5 papers

NM_000051.4

p.M1321V

c.3961A>G

1 paper

NM_000051.4

p.L1322H

c.3965T>A

3 papers

NM_000051.4

p.L1322P

c.3965T>C

1 paper

NM_000051.4

p.K1323_S1324del2

c.3967_3971del6

1 paper

NM_000051.4

p.K1323fs

c.3967_3968fs