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.G1676_E1677delFs

c.5027_5030del4

Surrounding Variants

1 paper

NM_000051.4

p.G1676Fs

c.5026delinsAAFs

1 paper

NM_000051.4

p.G1676fs

c.5026_5027fs

2 papers

NM_000051.4

p.G1676*

c.5026G>T

2 papers

NM_000051.4

p.G1676E

c.5027G>A

1 paper

NM_000051.4

p.G1676_F1683del8

c.5026_5048del24

1 paper

NM_000051.4

p.E1677K

c.5029G>A

3 papers

NM_000051.4

p.E1677*

c.5029G>T

1 paper

NM_000051.4

p.E1677_V1678delFs

c.5030_5033del4

1 paper

NM_000051.4

p.L1675V

c.5023T>G

1 paper

NM_000051.4

p.C1674*

c.5022C>A

2 papers

NM_000051.4

p.C1674W

c.5022C>G

1 paper

NM_000051.4

p.C1674Y

c.5021G>A