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

40 papers

NM_000051.4

p.R2486*

c.7456C>T

Surrounding Variants

5 papers

NM_000051.4

p.R2486G

c.7456C>G

3 papers

NM_000051.4

p.R2486Q

c.7457G>A

3 papers

NM_000051.4

p.R2486P

c.7457G>C

1 paper

NM_000051.4

p.L2487I

c.7459C>A

1 paper

NM_000051.4

p.L2487_V2497del0

c.7460_7489del30

1 paper

NM_000051.4

p.V2484A

c.7451T>C

4 papers

NM_000051.4

p.V2484I

c.7450G>A

1 paper

NM_000051.4

p.V2484L

c.7450G>C

1 paper

NM_000051.4

p.V2484L

c.7450G>T

1 paper

NM_000051.4

p.V2484_F2485delFs

c.7452_7453delAT

1 paper

NM_000051.4

p.V2484fs

c.7450_7451fs

1 paper

NM_000051.4

p.V2484_F2485delFs

c.7451_7454del4