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.K2082N

c.6246A>T

Surrounding Variants

1 paper

NM_000051.4

p.L2084_Y2086insFs

c.6252_6256dup5

1 paper

NM_000051.4

p.K2082N

c.6246A>C

3 papers

NM_000051.4

p.G2083R

c.6247G>A

3 papers

NM_000051.4

p.G2083R

c.6247G>C

1 paper

NM_000051.4

p.K2082E

c.6244A>G

5 papers

NM_000051.4

p.G2083E

c.6248G>A

3 papers

NM_000051.4

p.G2083A

c.6248G>C

3 papers

NM_000051.4

p.L2081*

c.6242T>A

1 paper

NM_000051.4

p.L2084L

c.6250T>C

3 papers

NM_000051.4

p.L2081*

c.6242T>G

1 paper

NM_000051.4

p.L2084V

c.6250T>G

1 paper

NM_000051.4

p.L2081V

c.6241T>G