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.C2473fs

c.7417_7418fs

Surrounding Variants

1 paper

NM_000051.4

p.C2473R

c.7417T>C

1 paper

NM_000051.4

p.C2473delFs

c.7417delT

1 paper

NM_000051.4

p.C2473Y

c.7418G>A

2 papers

NM_000051.4

p.N2472S

c.7415A>G

1 paper

NM_000051.4

p.C2473*

c.7419C>A

1 paper

NM_000051.4

p.N2472D

c.7414A>G

1 paper

NM_000051.4

p.N2472_E2478del7

c.7414_7433del21

1 paper

NM_000051.4

p.L2474insFs

c.7422dupA

2 papers

NM_000051.4

p.I2471insFs

c.7411_7412ins4

1 paper

NM_000051.4

p.I2471fs

c.7411_7412fs

3 papers

NM_000051.4

p.I2471V

c.7411A>G

1 paper

NM_000051.4

p.L2475fs

c.7423_7424fs