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

4 papers

NM_000051.4

p.H635R

c.1904A>G

Surrounding Variants

1 paper

NM_000051.4

p.H635insFs

c.1904_1905insA

1 paper

NM_000051.4

p.H635fs

c.1903_1904fs

2 papers

NM_000051.4

p.H635Y

c.1903C>T

2 papers

NM_000051.4

p.E634E

c.1902A>G

1 paper

NM_000051.4

p.H636_Q637del1

c.1908_1910delCCA

2 papers

NM_000051.4

p.H635_Q637del0

c.1905_1910del6

1 paper

NM_000051.4

p.H636Y

c.1906C>T

1 paper

NM_000051.4

p.H635delFs

c.1904_1905delAC

2 papers

NM_000051.4

p.H636Q

c.1908C>A

2 papers

NM_000051.4

p.H636Q

c.1908C>G

1 paper

NM_000051.4

p.E634K

c.1900G>A

1 paper

NM_000051.4

p.E634Q

c.1900G>C