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

5 papers

NM_000051.4

p.H291R

c.872A>G

Surrounding Variants

1 paper

NM_000051.4

p.H291P

c.872A>C

2 papers

NM_000051.4

p.H291L

c.872A>T

1 paper

NM_000051.4

p.H291N

c.871C>A

1 paper

NM_000051.4

p.H291D

c.871C>G

3 papers

NM_000051.4

p.H291Y

c.871C>T

1 paper

NM_000051.4

p.P292delFs

c.875delC

1 paper

NM_000051.4

p.P292T

c.874C>A

1 paper

NM_000051.4

p.P292fs

c.874_875fs

1 paper

NM_000051.4

p.H290Q

c.870T>A

1 paper

NM_000051.4

p.H290insFs

c.869_870insT

1 paper

NM_000051.4

p.H290P

c.869A>C

1 paper

NM_000051.4

p.H290R

c.869A>G