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.Q222R

c.665A>G

Surrounding Variants

1 paper

NM_000051.4

p.E223_A234ins4

c.667_702dup36

1 paper

NM_000051.4

p.Q222L

c.665A>T

1 paper

NM_000051.4

p.Q222_S226delFs

c.666_678del13

1 paper

NM_000051.4

p.E223_S227del5

c.667_680del15

1 paper

NM_000051.4

p.Q222H

c.666A>C

1 paper

NM_000051.4

p.Q222Q

c.666A>G

1 paper

NM_000051.4

p.Q222H

c.666A>T

1 paper

NM_000051.4

p.Q222fs

c.664_665fs

7 papers

NM_000051.4

p.Q222*

c.664C>T

1 paper

NM_000051.4

p.Q222fs

c.664_665fs

1 paper

NM_000051.4

p.Q222_S227delFs

c.665_681del17

1 paper

NM_000051.4

p.R221S

c.663A>C