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

2 papers

NM_000051.4

p.V1729F

c.5185G>T

Surrounding Variants

25 papers

NM_000051.4

p.V1729L

c.5185G>C

1 paper

NM_000051.4

p.V1729fs

c.5185_5186fs

2 papers

NM_000051.4

p.V1729A

c.5186T>C

3 papers

NM_000051.4

p.K1728R

c.5183A>G

1 paper

NM_000051.4

p.K1728*

c.5182A>T

1 paper

NM_000051.4

p.R1730G

c.5188C>G

61 papers

NM_000051.4

p.R1730*

c.5188C>T

1 paper

NM_000051.4

p.V1727V

c.5181C>G

12 papers

NM_000051.4

p.R1730Q

c.5189G>A

1 paper

NM_000051.4

p.R1730P

c.5189G>C

7 papers

NM_000051.4

p.R1730L

c.5189G>T

1 paper

NM_000051.4

p.R1730R

c.5190A>G