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

7 papers

NM_000051.4

p.K810E

c.2428A>G

Surrounding Variants

2 papers

NM_000051.4

p.K810*

c.2428A>T

8 papers

NM_000051.4

p.S809*

c.2426C>A

8 papers

NM_000051.4

p.S809*

c.2426C>G

2 papers

NM_000051.4

p.S809L

c.2426C>T

1 paper

NM_000051.4

p.L811fs

c.2431_2432fs

1 paper

NM_000051.4

p.S809A

c.2425T>G

2 papers

NM_000051.4

p.T808T

c.2424A>G

2 papers

NM_000051.4

p.L811delFs

c.2433delA

1 paper

NM_000051.4

p.T808K

c.2423C>A

2 papers

NM_000051.4

p.M812V

c.2434A>G

1 paper

NM_000051.4

p.T808S

c.2422A>T

1 paper

NM_000051.4

p.L807F

c.2421A>T