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

10 papers

NM_000051.4

p.L822*

c.2465T>G

Surrounding Variants

6 papers

NM_000051.4

p.L822*

c.2465T>A

1 paper

NM_000051.4

p.L822S

c.2465T>C

1 paper

NM_000051.4

p.L822F

c.2466A>C

2 papers

NM_000051.4

p.L822L

c.2466A>G

2 papers

NM_000051.4

p.L822F

c.2466A>T

3 papers

NM_000051.4

p.L822V

c.2464T>G

1 paper

NM_000051.4

p.L822insFs

c.2464_2465insC

8 papers

NM_000051.4

p.L822_A823Splc

c.2466+1G>A

1 paper

NM_000051.4

p.L822_A823Splc

c.2466+1G>C

3 papers

NM_000051.4

p.S821N

c.2462G>A

1 paper

NM_000051.4

p.S821T

c.2462G>C

3 papers

NM_000051.4

p.L822_A823Splc

c.2466+2T>C