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

5 papers

NM_000051.4

p.R457Q

c.1370G>A

Surrounding Variants

1 paper

NM_000051.4

p.R457insFs

c.1370_1371ins26

1 paper

NM_000051.4

p.R457insFs

c.1370_1371ins26

6 papers

NM_000051.4

p.R457L

c.1370G>T

1 paper

NM_000051.4

p.C458_E461insFs

c.1372_1382dup11

2 papers

NM_000051.4

p.R457fs

c.1369_1370fs

40 papers

NM_000051.4

p.R457*

c.1369C>T

1 paper

NM_000051.4

p.L456F

c.1368A>C

1 paper

NM_000051.4

p.L456L

c.1368A>G

1 paper

NM_000051.4

p.L456F

c.1368A>T

1 paper

NM_000051.4

p.C458R

c.1372T>C

2 papers

NM_000051.4

p.C458Y

c.1373G>A

1 paper

NM_000051.4

p.C458delFs

c.1374delC