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.Y2627S

c.7880A>C

Surrounding Variants

3 papers

NM_000051.4

p.Y2627insFs

c.7880_7881insT

5 papers

NM_000051.4

p.Y2627C

c.7880A>G

6 papers

NM_000051.4

p.Y2627H

c.7879T>C

1 paper

NM_000051.4

p.Y2627delFs

c.7880delA

1 paper

NM_000051.4

p.I2628fs

c.7882_7883fs

1 paper

NM_000051.4

p.I2628L

c.7882A>C

1 paper

NM_000051.4

p.I2628V

c.7882A>G

1 paper

NM_000051.4

p.I2628delFs

c.7884delT

1 paper

NM_000051.4

p.A2626D

c.7877C>A

5 papers

NM_000051.4

p.A2626V

c.7877C>T

45 papers

NM_000051.4

p.I2629_L2630delFs

c.7886_7890del5

2 papers

NM_000051.4

p.A2626T

c.7876G>A