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.G2020A

c.6059G>C

Surrounding Variants

6 papers

NM_000051.4

p.G2020D

c.6059G>A

6 papers

NM_000051.4

p.G2020V

c.6059G>T

1 paper

NM_000051.4

p.G2020_G2022insFs

c.6060_6064dup5

4 papers

NM_000051.4

p.G2020C

c.6058G>T

1 paper

NM_000051.4

p.Y2019Y

c.6057T>C

1 paper

NM_000051.4

p.C2021R

c.6061T>C

23 papers

NM_000051.4

p.Y2019C

c.6056A>G

2 papers

NM_000051.4

p.Y2019F

c.6056A>T

2 papers

NM_000051.4

p.C2021Y

c.6062G>A

1 paper

NM_000051.4

p.Y2019H

c.6055T>C

4 papers

NM_000051.4

p.Y2019D

c.6055T>G

1 paper

NM_000051.4

p.Y2019fs

c.6055_6056fs