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.L3010F

c.9030A>C

Surrounding Variants

1 paper

NM_000051.4

p.L3010F

c.9030A>T

1 paper

NM_000051.4

p.M3011del1

c.9031_9032delATG

16 papers

NM_000051.4

p.M3011V

c.9031A>G

1 paper

NM_000051.4

p.M3011fs

c.9031_9032fs

4 papers

NM_000051.4

p.L3010*

c.9029T>A

1 paper

NM_000051.4

p.L3010S

c.9029T>C

4 papers

NM_000051.4

p.L3010*

c.9029T>G

1 paper

NM_000051.4

p.M3011_R3012delFs

c.9031_9034del4

3 papers

NM_000051.4

p.M3011K

c.9032T>A

2 papers

NM_000051.4

p.M3011T

c.9032T>C

4 papers

NM_000051.4

p.M3011R

c.9032T>G

1 paper

NM_000051.4

p.L3010fs

c.9028_9029fs