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.R1859I

c.5576G>T

Surrounding Variants

1 paper

NM_000051.4

p.N1860insFs

c.5579_5580insA

1 paper

NM_000051.4

p.N1860delFs

c.5579delA

1 paper

NM_000051.4

p.N1860delFs

c.5578_5579delAA

1 paper

NM_000051.4

p.N1860Y

c.5578A>T

1 paper

NM_000051.4

p.N1860fs

c.5578_5579fs

6 papers

NM_000051.4

p.W1858*

c.5574G>A

2 papers

NM_000051.4

p.W1858C

c.5574G>C

2 papers

NM_000051.4

p.W1858C

c.5574G>T

2 papers

NM_000051.4

p.R1859_N1860delFs

c.5576_5579del4

1 paper

NM_000051.4

p.N1860S

c.5579A>G

7 papers

NM_000051.4

p.W1858*

c.5573G>A

1 paper

NM_000051.4

p.W1858R

c.5572T>A