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.E586delFs

c.1757_1758delAG

Surrounding Variants

2 papers

NM_000051.4

p.L585*

c.1754T>A

1 paper

NM_000051.4

p.L585S

c.1754T>C

2 papers

NM_000051.4

p.L585*

c.1754T>G

1 paper

NM_000051.4

p.L585fs

c.1753_1754fs

1 paper

NM_000051.4

p.L585fs

c.1753_1754fs

3 papers

NM_000051.4

p.E586K

c.1756G>A

1 paper

NM_000051.4

p.E586Q

c.1756G>C

1 paper

NM_000051.4

p.E586delFs

c.1757delA

2 papers

NM_000051.4

p.Q584R

c.1751A>G

1 paper

NM_000051.4

p.E586V

c.1757A>T

1 paper

NM_000051.4

p.G587delFs

c.1760delG

3 papers

NM_000051.4

p.Q584*

c.1750C>T