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

2 papers

NM_000051.4

p.L413fs

c.1237_1238fs

Surrounding Variants

5 papers

NM_000051.4

p.L413I

c.1237C>A

1 paper

NM_000051.4

p.L413insFs

c.1238_1239ins4

2 papers

NM_000051.4

p.L413V

c.1237C>G

1 paper

NM_000051.4

p.L413L

c.1237C>T

1 paper

NM_000051.4

p.L413delFs

c.1238delT

2 papers

NM_000051.4

p.W412*

c.1236G>A

1 paper

NM_000051.4

p.W412C

c.1236G>C

4 papers

NM_000051.4

p.W412C

c.1236G>T

1 paper

NM_000051.4

p.L413delFs

c.1237delC

1 paper

NM_000051.4

p.L413P

c.1238T>C

1 paper

NM_000051.4

p.L413R

c.1238T>G

1 paper

NM_000051.4

p.L413L

c.1239A>C