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.K1782fs

c.5344_5345fs

Surrounding Variants

1 paper

NM_000051.4

p.K1782*

c.5344A>T

1 paper

NM_000051.4

p.K1782R

c.5345A>G

2 papers

NM_000051.4

p.K1782insFs

c.5344_5345insA

1 paper

NM_000051.4

p.K1782delFs

c.5344delA

5 papers

NM_000051.4

p.E1783_N1784delFs

c.5347_5350del4

1 paper

NM_000051.4

p.D1781G

c.5342A>G

1 paper

NM_000051.4

p.D1781N

c.5341G>A

4 papers

NM_000051.4

p.D1781H

c.5341G>C

3 papers

NM_000051.4

p.N1784insFs

c.5351dupA

1 paper

NM_000051.4

p.E1783fs

c.5347_5348fs

4 papers

NM_000051.4

p.E1783*

c.5347G>T

1 paper

NM_000051.4

p.N1784delFs

c.5351delA