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.F336V

c.1006T>G

Surrounding Variants

3 papers

NM_000051.4

p.G335E

c.1004G>A

7 papers

NM_000051.4

p.R337S

c.1009C>A

1 paper

NM_000051.4

p.R337fs

c.1009_1010fs

1 paper

NM_000051.4

p.R337_N338insGTC

c.1009_1013ins9

2 papers

NM_000051.4

p.R337G

c.1009C>G

150 papers

NM_000051.4

p.R337C

c.1009C>T

1 paper

NM_000051.4

p.G335Fs

c.1003delinsGAFs

1 paper

NM_000051.4

p.G335_R337del3

c.1003_1010del9

94 papers

NM_000051.4

p.R337H

c.1010G>A

1 paper

NM_000051.4

p.R337P

c.1010G>C

3 papers

NM_000051.4

p.R337L

c.1010G>T

2 papers

NM_000051.4

p.S334*

c.1001C>A