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

2 papers

NM_000051.4

p.S334*

c.1001C>A

Surrounding Variants

3 papers

NM_000051.4

p.S334*

c.1001C>G

1 paper

NM_000051.4

p.G335_R337del3

c.1003_1010del9

1 paper

NM_000051.4

p.G335Fs

c.1003delinsGAFs

1 paper

NM_000051.4

p.S333Y

c.998C>A

59 papers

NM_000051.4

p.S333F

c.998C>T

3 papers

NM_000051.4

p.G335E

c.1004G>A

1 paper

NM_000051.4

p.S333P

c.997T>C

1 paper

NM_000051.4

p.F336V

c.1006T>G

11 papers

NM_000051.4

p.Y332C

c.995A>G

1 paper

NM_000051.4

p.Y332H

c.994T>C

1 paper

NM_000051.4

p.Y332insFs

c.995dupA

7 papers

NM_000051.4

p.R337S

c.1009C>A