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.G1746delFs

c.5236delG

Surrounding Variants

1 paper

NM_000051.4

p.T1745I

c.5234C>T

3 papers

NM_000051.4

p.G1746R

c.5236G>A

3 papers

NM_000051.4

p.G1746R

c.5236G>C

1 paper

NM_000051.4

p.G1746fs

c.5236_5237fs

2 papers

NM_000051.4

p.T1745P

c.5233A>C

1 paper

NM_000051.4

p.G1746A

c.5237G>C

1 paper

NM_000051.4

p.G1746insFs

c.5238dupA

2 papers

NM_000051.4

p.G1746V

c.5237G>T

1 paper

NM_000051.4

p.G1746G

c.5238A>G

1 paper

NM_000051.4

p.K1744N

c.5232G>C

1 paper

NM_000051.4

p.K1744N

c.5232G>T

1 paper

NM_000051.4

p.K1744R

c.5231A>G