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.P1829L

c.5486C>T

Surrounding Variants

5 papers

NM_000051.4

p.P1829S

c.5485C>T

8 papers

NM_000051.4

p.M1830V

c.5488A>G

1 paper

NM_000051.4

p.K1828M

c.5483A>T

3 papers

NM_000051.4

p.M1830K

c.5489T>A

6 papers

NM_000051.4

p.M1830T

c.5489T>C

1 paper

NM_000051.4

p.K1828fs

c.5482_5483fs

1 paper

NM_000051.4

p.K1828E

c.5482A>G

1 paper

NM_000051.4

p.L1827F

c.5481A>C

1 paper

NM_000051.4

p.L1827L

c.5481A>G

1 paper

NM_000051.4

p.L1827F

c.5481A>T

1 paper

NM_000051.4

p.K1828_P1829delFs

c.5482_5486del5

1 paper

NM_000051.4

p.C1831Y

c.5492G>A