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.E2600E

c.7800G>A

Surrounding Variants

1 paper

NM_000051.4

p.A2601V

c.7802C>T

2 papers

NM_000051.4

p.A2602T

c.7804G>A

1 paper

NM_000051.4

p.A2602S

c.7804G>T

1 paper

NM_000051.4

p.T2599fs

c.7795_7796fs

1 paper

NM_000051.4

p.T2599_E2600insGT

c.7795_7799ins6

1 paper

NM_000051.4

p.A2602V

c.7805C>T

1 paper

NM_000051.4

p.N2603fs

c.7807_7808fs

2 papers

NM_000051.4

p.N2603Y

c.7807A>T

15 papers

NM_000051.4

p.R2598Q

c.7793G>A

2 papers

NM_000051.4

p.R2598L

c.7793G>T

1 paper

NM_000051.4

p.R2598_E2600Fs

c.7793_7798delinsCCFs

5 papers

NM_000051.4

p.N2603S

c.7808A>G