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.Y2202fs

c.6604_6605fs

Surrounding Variants

12 papers

NM_000051.4

p.Y2202D

c.6604T>G

1 paper

NM_000051.4

p.Y2202_I2203delFs

c.6606_6609del4

1 paper

NM_000051.4

p.Y2202*

c.6606T>A

1 paper

NM_000051.4

p.Y2202*

c.6606T>G

1 paper

NM_000051.4

p.V2201I

c.6601G>A

2 papers

NM_000051.4

p.V2201fs

c.6601_6602fs

2 papers

NM_000051.4

p.V2201_Y2202insC

c.6601_6605ins3

1 paper

NM_000051.4

p.I2203insFs

c.6607_6608dupAT

1 paper

NM_000051.4

p.V2201L

c.6601G>T

1 paper

NM_000051.4

p.V2201delFs

c.6601delG

2 papers

NM_000051.4

p.I2203T

c.6608T>C

1 paper

NM_000051.4

p.K2204E

c.6610A>G