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.R2604T

c.7811G>C

Surrounding Variants

1 paper

NM_000051.4

p.R2604ins1

c.7811_7812insAAT

2 papers

NM_000051.4

p.R2604S

c.7812A>C

2 papers

NM_000051.4

p.R2604S

c.7812A>T

1 paper

NM_000051.4

p.R2604fs

c.7810_7811fs

1 paper

NM_000051.4

p.N2603N

c.7809T>C

1 paper

NM_000051.4

p.R2604delFs

c.7811_7812delGA

5 papers

NM_000051.4

p.N2603S

c.7808A>G

1 paper

NM_000051.4

p.I2606_S2611delFs

c.7816_7831del16

1 paper

NM_000051.4

p.N2603fs

c.7807_7808fs

1 paper

NM_000051.4

p.I2605M

c.7815A>G

2 papers

NM_000051.4

p.N2603Y

c.7807A>T

1 paper

NM_000051.4

p.I2606_C2607del2

c.7816_7820del6