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

5 papers

NM_000051.4

p.K1807E

c.5419A>G

Surrounding Variants

2 papers

NM_000051.4

p.I1806M

c.5418A>G

2 papers

NM_000051.4

p.K1807R

c.5420A>G

1 paper

NM_000051.4

p.K1807N

c.5421G>C

1 paper

NM_000051.4

p.K1807N

c.5421G>T

7 papers

NM_000051.4

p.I1806T

c.5417T>C

1 paper

NM_000051.4

p.T1808R

c.5423C>G

1 paper

NM_000051.4

p.T1808I

c.5423C>T

3 papers

NM_000051.4

p.W1805*

c.5415G>A

1 paper

NM_000051.4

p.W1805C

c.5415G>C

1 paper

NM_000051.4

p.W1805C

c.5415G>T

1 paper

NM_000051.4

p.I1806delFs

c.5416delA

1 paper

NM_000051.4

p.T1808T

c.5424A>G