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.T2556fs

c.7666_7667fs

Surrounding Variants

2 papers

NM_000051.4

p.T2556S

c.7666A>T

1 paper

NM_000051.4

p.H2555Q

c.7665C>A

3 papers

NM_000051.4

p.T2556S

c.7667C>G

1 paper

NM_000051.4

p.H2555Q

c.7665C>G

4 papers

NM_000051.4

p.H2555delins

c.7665delinsGTGA

3 papers

NM_000051.4

p.L2557delFs

c.7669_7670delTT

11 papers

NM_000051.4

p.L2557_F2558delFs

c.7671_7674del4

1 paper

NM_000051.4

p.L2557_F2558delFs

c.7670_7674del5

2 papers

NM_000051.4

p.H2555R

c.7664A>G

1 paper

NM_000051.4

p.H2555N

c.7663C>A

2 papers

NM_000051.4

p.H2555fs

c.7663_7664fs

1 paper

NM_000051.4

p.H2555Y

c.7663C>T