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.S1857fs

c.5569_5570fs

Surrounding Variants

1 paper

NM_000051.4

p.S1857P

c.5569T>C

1 paper

NM_000051.4

p.S1857delFs

c.5569delT

2 papers

NM_000051.4

p.S1857*

c.5570C>A

2 papers

NM_000051.4

p.S1857*

c.5570C>G

1 paper

NM_000051.4

p.W1858_R1859del2

c.5572_5576del6

1 paper

NM_000051.4

p.E1856Q

c.5566G>C

5 papers

NM_000051.4

p.E1856*

c.5566G>T

1 paper

NM_000051.4

p.W1858R

c.5572T>A

1 paper

NM_000051.4

p.W1858R

c.5572T>C

7 papers

NM_000051.4

p.W1858*

c.5573G>A

2 papers

NM_000051.4

p.N1855S

c.5564A>G

6 papers

NM_000051.4

p.W1858*

c.5574G>A