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.D467_K468del1

c.1400_1402delACA

Surrounding Variants

2 papers

NM_000051.4

p.D467H

c.1399G>C

1 paper

NM_000051.4

p.D467fs

c.1399_1400fs

1 paper

NM_000051.4

p.D467_K468del2

c.1399_1403del6

2 papers

NM_000051.4

p.Q466P

c.1397A>C

3 papers

NM_000051.4

p.D467E

c.1401C>G

65 papers

NM_000051.4

p.K468delFs

c.1402_1403delAA

1 paper

NM_000051.4

p.K468_R469delFs

c.1402_1406del5

28 papers

NM_000051.4

p.K468fs

c.1402_1403fs

2 papers

NM_000051.4

p.K468*

c.1402A>T

1 paper

NM_000051.4

p.R469delFs

c.1405_1406delAG

28 papers

NM_000051.4

p.K468fs

c.1402_1403fs

1 paper

NM_000051.4

p.Q466fs

c.1396_1397fs