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.S1163Y

c.3488C>A

Surrounding Variants

1 paper

NM_000051.4

p.S1163F

c.3488C>T

1 paper

NM_000051.4

p.S1163S

c.3489C>T

1 paper

NM_000051.4

p.S1163P

c.3487T>C

1 paper

NM_000051.4

p.C1164R

c.3490T>C

1 paper

NM_000051.4

p.C1164_S1165insFs

c.3492_3493insT

2 papers

NM_000051.4

p.C1164F

c.3491G>T

3 papers

NM_000051.4

p.L1162*

c.3485T>A

5 papers

NM_000051.4

p.L1162*

c.3485T>G

1 paper

NM_000051.4

p.S1165insFs

c.3493_3494insT

1 paper

NM_000051.4

p.S1165R

c.3493A>C

1 paper

NM_000051.4

p.S1165G

c.3493A>G

1 paper

NM_000051.4

p.V1161V

c.3483T>G