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

3 papers

NM_000051.4

p.L2270delFs

c.6810delC

Surrounding Variants

1 paper

NM_000051.4

p.L2270P

c.6809T>C

2 papers

NM_000051.4

p.L2270R

c.6809T>G

1 paper

NM_000051.4

p.L2270V

c.6808C>G

1 paper

NM_000051.4

p.L2270F

c.6808C>T

1 paper

NM_000051.4

p.L2270fs

c.6808_6809fs

1 paper

NM_000051.4

p.P2271fs

c.6811_6812fs

1 paper

NM_000051.4

p.Q2269_L2270Splc

c.6808-1G>A

2 papers

NM_000051.4

p.Q2269_L2270Splc

c.6808-1G>C

2 papers

NM_000051.4

p.P2271L

c.6812C>T

11 papers

NM_000051.4

p.E2272K

c.6814G>A

1 paper

NM_000051.4

p.E2272fs

c.6814_6815fs

4 papers

NM_000051.4

p.E2272*

c.6814G>T